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dbVar

Database of genomic structural variation

nsv6305336

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:264,667

Description:nsv5489760 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: 3701 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):11,910,508-12,175,174

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305336	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	11,910,508	12,175,174
nsv6305336	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	11,910,508	12,175,174

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17655596	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17655596	Remapped	Perfect	NC_000009.12:g.119 10508_12175174del	GRCh38.p12	First Pass	NC_000009.12	Chr9	11,910,508	12,175,174
nssv17655596	Submitted genomic		NC_000009.11:g.119 10508_12175174del	GRCh37 (hg19)		NC_000009.11	Chr9	11,910,508	12,175,174

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)
nssv17655596	0.011	69	6122

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