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dbVar

Database of genomic structural variation

nsv6382640

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:3,644,867

Links to Other Resources

Overlapping Genes

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: 9426 SVs from 116 studies. See in: genome view

Submitted genomic88,105,356-91,750,222

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6382640	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	88,105,356	91,750,222
nsv6382640	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	89,026,508	92,671,373

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18121808	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18121808	Submitted genomic		NC_000004.12:g.881 05356_91750222del	GRCh38 (hg38)		NC_000004.12	Chr4	88,105,356	91,750,222
nssv18121808	Remapped	Perfect	NC_000004.11:g.890 26508_92671373del	GRCh37.p13	First Pass	NC_000004.11	Chr4	89,026,508	92,671,373

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv18121808	<0.001	1	39262

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