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dbVar

Database of genomic structural variation

nsv5532635

Organism: Homo sapiens

Study:nstd206 (Byrska-Bishop et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:86

Publication(s):Byrska-Bishop et al. 2022

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: 284 SVs from 32 studies. See in: genome view

Submitted genomic17,259,963-17,260,048

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5532635	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	17,259,963	17,260,048
nsv5532635	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	17,163,277	17,163,362

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17711842	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17711842	Submitted genomic		NC_000017.11:g.172 59963_17260048dup	GRCh38 (hg38)		NC_000017.11	Chr17	17,259,963	17,260,048
nssv17711842	Remapped	Perfect	NC_000017.10:g.171 63277_17163362dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	17,163,277	17,163,362

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)
nssv17711842	<0.001	2	6404

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