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dbVar

Database of genomic structural variation

nsv6118147

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:96

Description:nsv5434142 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: 155 SVs from 40 studies. See in: genome view

Remapped(Score: Perfect):232,333,168-232,333,263

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6118147	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	232,333,168	232,333,263
nsv6118147	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	233,197,878	233,197,973

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17661237	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17661237	Remapped	Perfect	NC_000002.12:g.232 333168_232333263de l	GRCh38.p12	First Pass	NC_000002.12	Chr2	232,333,168	232,333,263
nssv17661237	Submitted genomic		NC_000002.11:g.233 197878_233197973de l	GRCh37 (hg19)		NC_000002.11	Chr2	233,197,878	233,197,973

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)
nssv17661237	0.342	2081	6086

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