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dbVar

Database of genomic structural variation

nsv3917016

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:3,122,251

Description:NCBI36/hg18 1q21.3-23.1(chr1:152279618-155315215)x3 AND See cases

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: 8358 SVs from 110 studies. See in: genome view

Remapped(Score: Good):153,981,675-157,103,925

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3917016	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	153,981,675	153,981,675	157,103,925	157,103,925
nsv3917016	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	153,954,151	154,012,994	157,048,591	157,073,717
nsv3917016	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000001.9	Chr1	152,220,775	152,279,618	155,315,215	155,340,341

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126845	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000451496.2, VCV000402072.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15126845	Remapped	Good	NC_000001.11:g.(15 3981675_153981675) _(157103925_157103 925)dup	GRCh38.p12	First Pass	NC_000001.11	Chr1	153,981,675	153,981,675	157,103,925	157,103,925
nssv15126845	Remapped	Perfect	NC_000001.10:g.(15 3954151_154012994) _(157048591_157073 717)dup	GRCh37.p13	First Pass	NC_000001.10	Chr1	153,954,151	154,012,994	157,048,591	157,073,717
nssv15126845	Submitted genomic		NC_000001.9:g.(152 220775_152279618)_ (155315215_1553403 41)dup	NCBI36 (hg18)		NC_000001.9	Chr1	152,220,775	152,279,618	155,315,215	155,340,341

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
nssv15126845	NCBI36: NC_000001.9:g.(152220775_152279618)_(155315215_155340341)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000451496.2, VCV000402072.2	3

No genotype data were submitted for this variant

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