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dbVar

Database of genomic structural variation

nsv5460508

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:508

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: 701 SVs from 66 studies. See in: genome view

Submitted genomic467,447-467,954

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5460508	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	467,447	467,954
nsv5460508	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	467,562	468,069

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17743020	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17743020	Submitted genomic		NC_000005.10:g.467 447_467954del	GRCh38 (hg38)		NC_000005.10	Chr5	467,447	467,954
nssv17743020	Remapped	Perfect	NC_000005.9:g.4675 62_468069del	GRCh37.p13	First Pass	NC_000005.9	Chr5	467,562	468,069

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)
nssv17743020	0.305	1953	6404

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