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dbVar

Database of genomic structural variation

nsv3888295

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:99,970

Description:
See descriptions for individual calls in download files
Publication(s):Jen et al. 2001

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: 293 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):160,041,373-160,141,342

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3888295	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	160,041,373	160,141,342
nsv3888295	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	160,011,163	160,111,132

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15131504	duplication	Multiple	Multiple	Familial Hemiplegic Migraine; Familial hemiplegic migraine; Migraine, familial hemiplegic	Uncertain significance	ClinVar	RCV000557097.5, VCV000470189.7
nssv16867208	duplication	Multiple	Multiple	EAST syndrome; SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES; SeSAME syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001343836.4, VCV000470189.7

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15131504	Remapped	Perfect	NC_000001.11:g.(?_ 160041373)_(160141 342_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,041,373	160,141,342
nssv16867208	Remapped	Perfect	NC_000001.11:g.(?_ 160041373)_(160141 342_?)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	160,041,373	160,141,342
nssv15131504	Submitted genomic		NC_000001.10:g.(?_ 160011163)_(160111 132_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	160,011,163	160,111,132
nssv16867208	Submitted genomic		NC_000001.10:g.(?_ 160011163)_(160111 132_?)dup	GRCh37 (hg19)		NC_000001.10	Chr1	160,011,163	160,111,132

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
nssv15131504	GRCh37: NC_000001.10:g.(?_160011163)_(160111132_?)dup	duplication	germline	Familial Hemiplegic Migraine; Familial hemiplegic migraine; Migraine, familial hemiplegic	Uncertain significance	ClinVar	RCV000557097.5, VCV000470189.7
nssv16867208	GRCh37: NC_000001.10:g.(?_160011163)_(160111132_?)dup	duplication	germline	EAST syndrome; SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE; SESAMES; SeSAME syndrome; See individual phenotypes in OMIM allelic variants	Uncertain significance	ClinVar	RCV001343836.4, VCV000470189.7

No genotype data were submitted for this variant

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