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

dbVar

Database of genomic structural variation

nsv6413108

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:516,923

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: 1371 SVs from 71 studies. See in: genome view

Submitted genomic89,111,826-89,628,748

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6413108	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	89,111,826	89,628,748
nsv6413108	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	89,821,545	90,338,467

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18234289	duplication	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18234289	Submitted genomic		NC_000006.12:g.891 11826_89628748dup	GRCh38 (hg38)		NC_000006.12	Chr6	89,111,826	89,628,748
nssv18234289	Remapped	Perfect	NC_000006.11:g.898 21545_90338467dup	GRCh37.p13	First Pass	NC_000006.11	Chr6	89,821,545	90,338,467

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)
nssv18234289	<0.001	1	39292

You are here: NCBI