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dbVar

Database of genomic structural variation

nsv6686565

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:785

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: 102 SVs from 17 studies. See in: genome view

Submitted genomic113,991,841-113,992,625

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6686565	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	113,991,841	113,992,625
nsv6686565	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	114,749,418	114,750,202

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18440275	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
nssv18440275	Submitted genomic		NC_000002.12:g.113 991841_113992625de l	GRCh38 (hg38)		NC_000002.12	Chr2	113,991,841	113,992,625
nssv18440275	Remapped	Perfect	NC_000002.11:g.114 749418_114750202de l	GRCh37.p13	First Pass	NC_000002.11	Chr2	114,749,418	114,750,202

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)
nssv18440275	5.1e-05	11	266626

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