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dbVar

Database of genomic structural variation

nsv6124052

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:99

Description:nsv5517590 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: 114 SVs from 35 studies. See in: genome view

Remapped(Score: Perfect):2,534,345-2,534,443

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6124052	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	2,534,345	2,534,443
nsv6124052	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	2,514,991	2,515,089

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17959492	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17959492	Remapped	Perfect	NC_000020.11:g.253 4345_2534443del	GRCh38.p12	First Pass	NC_000020.11	Chr20	2,534,345	2,534,443
nssv17959492	Submitted genomic		NC_000020.10:g.251 4991_2515089del	GRCh37 (hg19)		NC_000020.10	Chr20	2,514,991	2,515,089

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)
nssv17959492	0.119	764	6398

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