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dbVar

Database of genomic structural variation

nsv6512317

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:996

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: 135 SVs from 27 studies. See in: genome view

Submitted genomic10,507,167-10,508,162

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6512317	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	10,507,167	10,508,162
nsv6512317	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	10,410,484	10,411,479

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18187655	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18187655	Submitted genomic		NC_000017.11:g.105 07167_10508162dup	GRCh38 (hg38)		NC_000017.11	Chr17	10,507,167	10,508,162
nssv18187655	Remapped	Perfect	NC_000017.10:g.104 10484_10411479dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	10,410,484	10,411,479

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)
nssv18187655	<0.001	5	39138

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