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dbVar

Database of genomic structural variation

nsv6309275

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:308,493

Description:NC_000012.11:g.(?_57881874)_(58190366_?)dup AND not provided

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: 990 SVs from 76 studies. See in: genome view

Remapped(Score: Perfect):57,488,091-57,796,583

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309275	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	57,488,091	57,796,583
nsv6309275	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	57,881,874	58,190,366

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17974668	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001916382.3, VCV001410313.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17974668	Remapped	Perfect	NC_000012.12:g.(?_ 57488091)_(5779658 3_?)dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	57,488,091	57,796,583
nssv17974668	Submitted genomic		NC_000012.11:g.(?_ 57881874)_(5819036 6_?)dup	GRCh37 (hg19)		NC_000012.11	Chr12	57,881,874	58,190,366

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
nssv17974668	GRCh37: NC_000012.11:g.(?_57881874)_(58190366_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001916382.3, VCV001410313.3

No genotype data were submitted for this variant

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