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dbVar

Database of genomic structural variation

nsv6295294

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:882

Description:nsv5459515 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: 99 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):161,839,097-161,839,978

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6295294	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	161,839,097	161,839,978
nsv6295294	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	161,266,103	161,266,984

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17668505	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17668505	Remapped	Perfect	NC_000005.10:g.161 839097_161839978de l	GRCh38.p12	First Pass	NC_000005.10	Chr5	161,839,097	161,839,978
nssv17668505	Submitted genomic		NC_000005.9:g.1612 66103_161266984del	GRCh37 (hg19)		NC_000005.9	Chr5	161,266,103	161,266,984

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)
nssv17668505	0.068	437	6404

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