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dbVar

Database of genomic structural variation

nsv6647494

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:9,500

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: 124 SVs from 32 studies. See in: genome view

Submitted genomic23,763,901-23,773,400

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6647494	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	23,763,901	23,773,400
nsv6647494	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	24,090,391	24,099,890

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18369655	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
nssv18369655	Submitted genomic		NC_000001.11:g.237 63901_23773400del	GRCh38 (hg38)		NC_000001.11	Chr1	23,763,901	23,773,400
nssv18369655	Remapped	Perfect	NC_000001.10:g.240 90391_24099890del	GRCh37.p13	First Pass	NC_000001.10	Chr1	24,090,391	24,099,890

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)
nssv18369655	0.005	1189	253048

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