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dbVar

Database of genomic structural variation

nsv6518617

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:11,600

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: 289 SVs from 56 studies. See in: genome view

Submitted genomic74,617,301-74,628,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6518617	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	74,617,301	74,628,900
nsv6518617	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	72,613,440	72,625,039

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18038431	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18038431	Submitted genomic		NC_000017.11:g.746 17301_74628900del	GRCh38 (hg38)		NC_000017.11	Chr17	74,617,301	74,628,900
nssv18038431	Remapped	Perfect	NC_000017.10:g.726 13440_72625039del	GRCh37.p13	First Pass	NC_000017.10	Chr17	72,613,440	72,625,039

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)
nssv18038431	<0.001	2	39206

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