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dbVar

Database of genomic structural variation

nsv6122384

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:2,854

Description:nsv5528628 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: 126 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):69,029,752-69,032,605

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6122384	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	69,029,752	69,032,605
nsv6122384	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	69,063,655	69,066,508

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17965039	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17965039	Remapped	Perfect	NC_000016.10:g.690 29752_69032605del	GRCh38.p12	First Pass	NC_000016.10	Chr16	69,029,752	69,032,605
nssv17965039	Submitted genomic		NC_000016.9:g.6906 3655_69066508del	GRCh37 (hg19)		NC_000016.9	Chr16	69,063,655	69,066,508

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)
nssv17965039	0.012	80	6404

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