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dbVar

Database of genomic structural variation

nsv3908592

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:159,283,657

Description:
See descriptions for individual calls in download files

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: 452963 SVs from 152 studies. See in: genome view

Remapped(Score: Good):43,361-159,327,017

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3908592	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	43,361	159,327,017
nsv3908592	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	43,361	159,119,707

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15161666	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510686.2, VCV000442833.2
nssv15161679	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000511549.2, VCV000442834.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15161666	Remapped	Good	NC_000007.14:g.(?_ 43361)_(159327017_ ?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	43,361	159,327,017
nssv15161679	Remapped	Good	NC_000007.14:g.(?_ 43361)_(159327017_ ?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	43,361	159,327,017
nssv15161666	Submitted genomic		NC_000007.13:g.(?_ 43361)_(159119707_ ?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	43,361	159,119,707
nssv15161679	Submitted genomic		NC_000007.13:g.(?_ 43361)_(159119707_ ?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	43,361	159,119,707

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
nssv15161666	GRCh37: NC_000007.13:g.(?_43361)_(159119707_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510686.2, VCV000442833.2
nssv15161679	GRCh37: NC_000007.13:g.(?_43361)_(159119707_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000511549.2, VCV000442834.2	3

No genotype data were submitted for this variant

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