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dbVar

Database of genomic structural variation

nsv4646431

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:52,601

Description:nsv4281945 from gnomAD Structural Variants. 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: 954 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):238,575-291,175

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4646431	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187633.1	Chr22\|NT_1 87633.1	238,575	291,175
nsv4646431	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	24,344,400	24,397,000

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv16157963	deletion	Curated	Curated

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16157963	Remapped	Perfect	NT_187633.1:g.2385 75_291175del	GRCh38.p12	First Pass	NT_187633.1	Chr22\|NT_1 87633.1	238,575	291,175
nssv16157963	Submitted genomic		NC_000022.10:g.243 44400_24397000del	GRCh37 (hg19)		NC_000022.10	Chr22	24,344,400	24,397,000

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)
nssv16157963	0.477	10357	21694

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