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dbVar

Database of genomic structural variation

nsv6794917

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:26

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: 73 SVs from 11 studies. See in: genome view

Submitted genomic148,483,956-148,483,981

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6794917	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000005.10	Chr5	148,483,956	148,483,981
nsv6794917	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	147,863,519	147,863,544

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18506450	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18506450	Submitted genomic		NC_000005.10:g.148 483956_148483981de l	GRCh38 (hg38)		NC_000005.10	Chr5	148,483,956	148,483,981
nssv18506450	Remapped	Perfect	NC_000005.9:g.1478 63519_147863544del	GRCh37.p13	First Pass	NC_000005.9	Chr5	147,863,519	147,863,544

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)
nssv18506450	0.006	1183	192238

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