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dbVar

Database of genomic structural variation

nsv6119514

Organism: Homo sapiens

Study:nstd186 (NCBI Curated Common Structural Variants)
Variant Type:copy number variation
Method Type:Curated
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:76

Description:nsv5445392 from Byrska-Bishop et. al 2021. For a full list of variants now included in nstd186, refer to the mapping file provided here.

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: 162 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):40,253,061-40,253,136

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6119514	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	40,253,061	40,253,136
nsv6119514	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	40,480,201	40,480,276

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17659654	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17659654	Remapped	Perfect	NC_000002.12:g.402 53061_40253136dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	40,253,061	40,253,136
nssv17659654	Submitted genomic		NC_000002.11:g.404 80201_40480276dup	GRCh37 (hg19)		NC_000002.11	Chr2	40,480,201	40,480,276

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17659654	0.175	1052	6004

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