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dbVar

Database of genomic structural variation

nsv3875235

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:181,179,327

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: 471774 SVs from 152 studies. See in: genome view

Remapped(Score: Good):113,462-181,292,788

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3875235	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	113,462	181,292,788
nsv3875235	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	113,577	180,719,789

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15151111	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000510723.2, VCV000441920.2
nssv15151221	copy number gain	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV000512039.2, VCV000441919.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15151111	Remapped	Good	NC_000005.10:g.(?_ 113462)_(181292788 _?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	113,462	181,292,788
nssv15151221	Remapped	Good	NC_000005.10:g.(?_ 113462)_(181292788 _?)dup	GRCh38.p12	First Pass	NC_000005.10	Chr5	113,462	181,292,788
nssv15151111	Submitted genomic		NC_000005.9:g.(?_1 13577)_(180719789_ ?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	113,577	180,719,789
nssv15151221	Submitted genomic		NC_000005.9:g.(?_1 13577)_(180719789_ ?)dup	GRCh37 (hg19)		NC_000005.9	Chr5	113,577	180,719,789

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
nssv15151111	GRCh37: NC_000005.9:g.(?_113577)_(180719789_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000510723.2, VCV000441920.2
nssv15151221	GRCh37: NC_000005.9:g.(?_113577)_(180719789_?)dup	copy number gain	not provided	See cases	Pathogenic	ClinVar	RCV000512039.2, VCV000441919.2	3

No genotype data were submitted for this variant

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