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dbVar

Database of genomic structural variation

nsv3884593

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:2,575,035

Description:Single allele AND multiple conditions
Publication(s):ACMG Board of Directors et al. 2014, Bird et al. 1998, Else et al. 2008, Green et al. 2013, Hampel et al. 2014, Jen et al. 2001, Kalia et al. 2016, Lenders et al. 2014, Miller et al. 2021, Miller et al. 2022, Reaume et al. 2013, Robson et al. 2010, Robson et al. 2015, Rubinstein et al. 2010, Singal et al. 2013

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 6723 SVs from 117 studies. See in: genome view

Remapped(Score: Perfect):159,373,648-161,948,682

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3884593	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	159,373,648	161,948,682
nsv3884593	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	159,343,438	161,918,472
nsv3884593	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	157,610,062	160,185,096

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15143225	deletion	Multiple	Multiple	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease, demyelinating, type 1b; Familial Hemiplegic Migraine; Familial hemiplegic migraine type 2; Familial or sporadic hemiplegic migraine; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; PARAGANGLIOMAS 3; PGL3; PORPHYRIA VARIEGATA; Paragangliomas 3; Porphyria variegata; Variegate Porphyria; Variegate porphyria	Pathogenic	ClinVar	RCV000677173.2, VCV000559476.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15143225	Remapped	Perfect	NC_000001.11:g.159 373648_161948682de l	GRCh38.p12	First Pass	NC_000001.11	Chr1	159,373,648	161,948,682
nssv15143225	Remapped	Perfect	NC_000001.10:g.159 343438_161918472de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	159,343,438	161,918,472
nssv15143225	Submitted genomic		NC_000001.9:g.1576 10062_160185096del	NCBI36 (hg18)		NC_000001.9	Chr1	157,610,062	160,185,096

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15143225	NCBI36: NC_000001.9:g.157610062_160185096del	deletion	unknown	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B; CMT1B; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease, demyelinating, type 1b; Familial Hemiplegic Migraine; Familial hemiplegic migraine type 2; Familial or sporadic hemiplegic migraine; Hereditary Paraganglioma-Pheochromocytoma Syndromes; Hereditary pheochromocytoma-paraganglioma; MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2; PARAGANGLIOMAS 3; PGL3; PORPHYRIA VARIEGATA; Paragangliomas 3; Porphyria variegata; Variegate Porphyria; Variegate porphyria	Pathogenic	ClinVar	RCV000677173.2, VCV000559476.2	1

No genotype data were submitted for this variant

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