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

dbVar

Database of genomic structural variation

nsv6395981

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:63,705

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: 1375 SVs from 96 studies. See in: genome view

Submitted genomic29,940,747-30,004,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6395981	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	29,940,747	30,004,451
nsv6395981	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	29,908,524	29,972,228

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18219101	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18219101	Submitted genomic		NC_000006.12:g.299 40747_30004451dup	GRCh38 (hg38)		NC_000006.12	Chr6	29,940,747	30,004,451
nssv18219101	Remapped	Perfect	NC_000006.11:g.299 08524_29972228dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	29,908,524	29,972,228

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)
nssv18219101	<0.001	2	39200

You are here: NCBI