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dbVar

Database of genomic structural variation

nsv6647656

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:8,484

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

Submitted genomic23,764,967-23,773,450

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6647656	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	23,764,967	23,773,450
nsv6647656	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	24,091,457	24,099,940

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18369656	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
nssv18369656	Submitted genomic		NC_000001.11:g.237 64967_23773450del	GRCh38 (hg38)		NC_000001.11	Chr1	23,764,967	23,773,450
nssv18369656	Remapped	Perfect	NC_000001.10:g.240 91457_24099940del	GRCh37.p13	First Pass	NC_000001.10	Chr1	24,091,457	24,099,940

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)
nssv18369656	0.005	1312	271854

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