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dbVar

Database of genomic structural variation

nsv6295641

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:4,067

Description:nsv5437245 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: 128 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):227,366,028-227,370,094

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295641	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	227,366,028	227,370,094
nsv6295641	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	228,230,744	228,234,810

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17676194	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17676194	Remapped	Perfect	NC_000002.12:g.227 366028_227370094de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	227,366,028	227,370,094
nssv17676194	Submitted genomic		NC_000002.11:g.228 230744_228234810de l	GRCh37 (hg19)		NC_000002.11	Chr2	228,230,744	228,234,810

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)
nssv17676194	0.162	1036	6404

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