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dbVar

Database of genomic structural variation

nsv6668384

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:10,660

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 44 studies. See in: genome view

Submitted genomic231,399,633-231,410,292

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6668384	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	231,399,633	231,410,292
nsv6668384	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	231,535,379	231,546,038

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18368537	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
nssv18368537	Submitted genomic		NC_000001.11:g.231 399633_231410292de l	GRCh38 (hg38)		NC_000001.11	Chr1	231,399,633	231,410,292
nssv18368537	Remapped	Perfect	NC_000001.10:g.231 535379_231546038de l	GRCh37.p13	First Pass	NC_000001.10	Chr1	231,535,379	231,546,038

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)
nssv18368537	0.001	296	275830

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