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dbVar

Database of genomic structural variation

nsv6298106

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:172

Description:nsv5430257 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: 124 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):46,449,243-46,449,414

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6298106	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	46,449,243	46,449,414
nsv6298106	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	46,914,915	46,915,086

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17676794	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17676794	Remapped	Perfect	NC_000001.11:g.464 49243_46449414del	GRCh38.p12	First Pass	NC_000001.11	Chr1	46,449,243	46,449,414
nssv17676794	Submitted genomic		NC_000001.10:g.469 14915_46915086del	GRCh37 (hg19)		NC_000001.10	Chr1	46,914,915	46,915,086

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)
nssv17676794	0.036	232	6376

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