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dbVar

Database of genomic structural variation

nsv6126421

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:385

Description:nsv5530766 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: 292 SVs from 45 studies. See in: genome view

Remapped(Score: Perfect):63,492,159-63,492,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6126421	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	63,492,159	63,492,543
nsv6126421	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	62,123,512	62,123,896

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959884	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959884	Remapped	Perfect	NC_000020.11:g.634 92159_63492543dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	63,492,159	63,492,543
nssv17959884	Submitted genomic		NC_000020.10:g.621 23512_62123896dup	GRCh37 (hg19)		NC_000020.10	Chr20	62,123,512	62,123,896

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)
nssv17959884	0.519	3326	6404

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