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dbVar

Database of genomic structural variation

nsv6533313

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:376,860

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: 2125 SVs from 87 studies. See in: genome view

Submitted genomic82,294,456-82,671,315

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6533313	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	82,294,456	82,671,315
nsv6533313	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	80,252,332	80,629,191

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18186033	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18186033	Submitted genomic		NC_000017.11:g.822 94456_82671315dup	GRCh38 (hg38)		NC_000017.11	Chr17	82,294,456	82,671,315
nssv18186033	Remapped	Perfect	NC_000017.10:g.802 52332_80629191dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	80,252,332	80,629,191

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)
nssv18186033	<0.001	1	39232

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