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dbVar

Database of genomic structural variation

nsv6839220

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:185

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: 192 SVs from 19 studies. See in: genome view

Submitted genomic123,710,623-123,710,807

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6839220	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	123,710,623	123,710,807
nsv6839220	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	124,722,863	124,723,047

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18550871	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
nssv18550871	Submitted genomic		NC_000008.11:g.123 710623_123710807de l	GRCh38 (hg38)		NC_000008.11	Chr8	123,710,623	123,710,807
nssv18550871	Remapped	Perfect	NC_000008.10:g.124 722863_124723047de l	GRCh37.p13	First Pass	NC_000008.10	Chr8	124,722,863	124,723,047

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)
nssv18550871	0.001	332	250782

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