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dbVar

Database of genomic structural variation

nsv6943360

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:5,272

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: 71 SVs from 20 studies. See in: genome view

Submitted genomic51,787,228-51,792,499

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6943360	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	51,787,228	51,792,499
nsv6943360	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	52,253,946	52,259,217

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18387829	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
nssv18387829	Submitted genomic		NC_000014.9:g.5178 7228_51792499del	GRCh38 (hg38)		NC_000014.9	Chr14	51,787,228	51,792,499
nssv18387829	Remapped	Perfect	NC_000014.8:g.5225 3946_52259217del	GRCh37.p13	First Pass	NC_000014.8	Chr14	52,253,946	52,259,217

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)
nssv18387829	2.5e-05	7	275636

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