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dbVar

Database of genomic structural variation

nsv6646173

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:6,042

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: 198 SVs from 56 studies. See in: genome view

Submitted genomic184,845,609-184,851,650

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6646173	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	184,845,609	184,851,650
nsv6646173	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	184,814,743	184,820,784

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18364356	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
nssv18364356	Submitted genomic		NC_000001.11:g.184 845609_184851650de l	GRCh38 (hg38)		NC_000001.11	Chr1	184,845,609	184,851,650
nssv18364356	Remapped	Perfect	NC_000001.10:g.184 814743_184820784de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	184,814,743	184,820,784

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)
nssv18364356	0.714	162668	228340

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