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dbVar

Database of genomic structural variation

nsv5477034

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:94,005

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: 536 SVs from 53 studies. See in: genome view

Submitted genomic11,539,713-11,633,717

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5477034	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	11,539,713	11,633,717
nsv5477034	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	11,397,222	11,491,226

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17008294	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17008294	Submitted genomic		NC_000008.11:g.115 39713_11633717dup	GRCh38 (hg38)		NC_000008.11	Chr8	11,539,713	11,633,717
nssv17008294	Remapped	Perfect	NC_000008.10:g.113 97222_11491226dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	11,397,222	11,491,226

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)
nssv17008294	0.001	7	6404

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