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dbVar

Database of genomic structural variation

nsv7022630

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:148

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: 253 SVs from 30 studies. See in: genome view

Submitted genomic47,370,467-47,370,614

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7022630	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000022.11	Chr22	47,370,467	47,370,614
nsv7022630	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000022.10	Chr22	47,766,217	47,766,364

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18653256	duplication	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
nssv18653256	Submitted genomic		NC_000022.11:g.473 70467_47370614dup	GRCh38 (hg38)		NC_000022.11	Chr22	47,370,467	47,370,614
nssv18653256	Remapped	Perfect	NC_000022.10:g.477 66217_47766364dup	GRCh37.p13	First Pass	NC_000022.10	Chr22	47,766,217	47,766,364

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)
nssv18653256	0.316	64811	206640

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