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dbVar

Database of genomic structural variation

nsv7024459

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:2,935

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: 76 SVs from 18 studies. See in: genome view

Submitted genomic38,696,754-38,699,688

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7024459	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	38,696,754	38,699,688
nsv7024459	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	39,092,759	39,095,693

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18451258	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
nssv18451258	Submitted genomic		NC_000022.11:g.386 96754_38699688del	GRCh38 (hg38)		NC_000022.11	Chr22	38,696,754	38,699,688
nssv18451258	Remapped	Perfect	NC_000022.10:g.390 92759_39095693del	GRCh37.p13	First Pass	NC_000022.10	Chr22	39,092,759	39,095,693

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)
nssv18451258	4e-06	1	276142

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