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dbVar

Database of genomic structural variation

nsv6927630

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:17,147

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: 110 SVs from 31 studies. See in: genome view

Submitted genomic55,400,615-55,417,761

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6927630	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	55,400,615	55,417,761
nsv6927630	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	55,794,399	55,811,545

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18595283	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
nssv18595283	Submitted genomic		NC_000012.12:g.554 00615_55417761dup	GRCh38 (hg38)		NC_000012.12	Chr12	55,400,615	55,417,761
nssv18595283	Remapped	Perfect	NC_000012.11:g.557 94399_55811545dup	GRCh37.p13	First Pass	NC_000012.11	Chr12	55,794,399	55,811,545

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)
nssv18595283	4e-06	1	272212

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