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dbVar

Database of genomic structural variation

nsv6295817

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:21,979

Description:nsv5447821 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: 248 SVs from 34 studies. See in: genome view

Remapped(Score: Perfect):148,189,283-148,211,261

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	148,189,283	148,211,261
nsv6295817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	148,946,852	148,968,830

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17659770	duplication	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17659770	Remapped	Perfect	NC_000002.12:g.148 189283_148211261du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	148,189,283	148,211,261
nssv17659770	Submitted genomic		NC_000002.11:g.148 946852_148968830du p	GRCh37 (hg19)		NC_000002.11	Chr2	148,946,852	148,968,830

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)
nssv17659770	0.09	567	6312

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