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dbVar

Database of genomic structural variation

nsv6900135

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:57

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

Submitted genomic27,043,393-27,043,449

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6900135	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	27,043,393	27,043,449
nsv6900135	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	27,064,940	27,064,996

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18582523	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
nssv18582523	Submitted genomic		NC_000011.10:g.270 43393_27043449dup	GRCh38 (hg38)		NC_000011.10	Chr11	27,043,393	27,043,449
nssv18582523	Remapped	Perfect	NC_000011.9:g.2706 4940_27064996dup	GRCh37.p13	First Pass	NC_000011.9	Chr11	27,064,940	27,064,996

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)
nssv18582523	0.012	2408	201612

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