Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6521666

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:45,721

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: 369 SVs from 58 studies. See in: genome view

Submitted genomic82,291,793-82,337,513

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6521666	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	82,291,793	82,337,513
nsv6521666	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	80,249,669	80,295,389

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18178826	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18178826	Submitted genomic		NC_000017.11:g.822 91793_82337513dup	GRCh38 (hg38)		NC_000017.11	Chr17	82,291,793	82,337,513
nssv18178826	Remapped	Perfect	NC_000017.10:g.802 49669_80295389dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	80,249,669	80,295,389

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)
nssv18178826	<0.001	1	39238

You are here: NCBI