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dbVar

Database of genomic structural variation

nsv6934655

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:193

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: 99 SVs from 24 studies. See in: genome view

Submitted genomic101,758,530-101,758,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6934655	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	101,758,530	101,758,722
nsv6934655	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	102,152,308	102,152,500

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18593472	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
nssv18593472	Submitted genomic		NC_000012.12:g.101 758530_101758722du p	GRCh38 (hg38)		NC_000012.12	Chr12	101,758,530	101,758,722
nssv18593472	Remapped	Perfect	NC_000012.11:g.102 152308_102152500du p	GRCh37.p13	First Pass	NC_000012.11	Chr12	102,152,308	102,152,500

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)
nssv18593472	4e-06	1	221642

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