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dbVar

Database of genomic structural variation

nsv6842863

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:13,900

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: 219 SVs from 37 studies. See in: genome view

Submitted genomic133,156,001-133,169,900

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6842863	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	133,156,001	133,169,900
nsv6842863	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	134,168,245	134,182,144

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18551386	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
nssv18551386	Submitted genomic		NC_000008.11:g.133 156001_133169900de l	GRCh38 (hg38)		NC_000008.11	Chr8	133,156,001	133,169,900
nssv18551386	Remapped	Perfect	NC_000008.10:g.134 168245_134182144de l	GRCh37.p13	First Pass	NC_000008.10	Chr8	134,168,245	134,182,144

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)
nssv18551386	0.001	357	252204

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