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dbVar

Database of genomic structural variation

nsv6301259

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:7,086

Description:nsv5505132 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: 129 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):65,436,492-65,443,577

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6301259	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	65,436,492	65,443,577
nsv6301259	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	65,203,963	65,211,048

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17656671	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17656671	Remapped	Perfect	NC_000011.10:g.654 36492_65443577del	GRCh38.p12	First Pass	NC_000011.10	Chr11	65,436,492	65,443,577
nssv17656671	Submitted genomic		NC_000011.9:g.6520 3963_65211048del	GRCh37 (hg19)		NC_000011.9	Chr11	65,203,963	65,211,048

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)
nssv17656671	0.039	250	6404

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