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dbVar

Database of genomic structural variation

nsv6343113

Organism: Homo sapiens

Study:nstd223 (Sedlazeck et al. 2020)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:129,000

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: 880 SVs from 79 studies. See in: genome view

Submitted genomic240,670,701-240,799,700

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6343113	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	240,670,701	240,799,700
nsv6343113	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	241,610,118	241,739,117

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18209000	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18209000	Submitted genomic		NC_000002.12:g.240 670701_240799700du p	GRCh38 (hg38)		NC_000002.12	Chr2	240,670,701	240,799,700
nssv18209000	Remapped	Perfect	NC_000002.11:g.241 610118_241739117du p	GRCh37.p13	First Pass	NC_000002.11	Chr2	241,610,118	241,739,117

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)
nssv18209000	0.001	55	38254

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