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dbVar

Database of genomic structural variation

nsv6122042

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:5,001

Description:nsv5531304 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: 400 SVs from 70 studies. See in: genome view

Remapped(Score: Perfect):2,646,000-2,651,000

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6122042	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	2,646,000	2,651,000
nsv6122042	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	2,696,001	2,701,001

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17964603	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17964603	Remapped	Perfect	NC_000016.10:g.264 6000_2651000del	GRCh38.p12	First Pass	NC_000016.10	Chr16	2,646,000	2,651,000
nssv17964603	Submitted genomic		NC_000016.9:g.2696 001_2701001del	GRCh37 (hg19)		NC_000016.9	Chr16	2,696,001	2,701,001

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)
nssv17964603	0.125	741	5920

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