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dbVar

Database of genomic structural variation

nsv6305494

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:86,875

Description:nsv5485822 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: 499 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):54,850,395-54,937,269

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6305494	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,850,395	54,937,269
nsv6305494	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	56,610,155	56,697,029

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17657108	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17657108	Remapped	Perfect	NC_000010.11:g.548 50395_54937269del	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,850,395	54,937,269
nssv17657108	Submitted genomic		NC_000010.10:g.566 10155_56697029del	GRCh37 (hg19)		NC_000010.10	Chr10	56,610,155	56,697,029

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)
nssv17657108	0.137	878	6404

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