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dbVar

Database of genomic structural variation

nsv6948562

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:46

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: 128 SVs from 26 studies. See in: genome view

Submitted genomic21,234,845-21,234,890

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6948562	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	21,234,845	21,234,890
nsv6948562	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	21,703,004	21,703,049

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18384343	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
nssv18384343	Submitted genomic		NC_000014.9:g.2123 4845_21234890del	GRCh38 (hg38)		NC_000014.9	Chr14	21,234,845	21,234,890
nssv18384343	Remapped	Perfect	NC_000014.8:g.2170 3004_21703049del	GRCh37.p13	First Pass	NC_000014.8	Chr14	21,703,004	21,703,049

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)
nssv18384343	0.141	35985	251310

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