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

dbVar

Database of genomic structural variation

nsv6551917

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,607

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: 135 SVs from 25 studies. See in: genome view

Submitted genomic100,051,086-100,052,692

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6551917	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	100,051,086	100,052,692
nsv6551917	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	100,516,642	100,518,248

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18249177	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18249177	Submitted genomic		NC_000001.11:g.100 051086_100052692in v	GRCh38 (hg38)		NC_000001.11	Chr1	100,051,086	100,052,692
nssv18249177	Remapped	Perfect	NC_000001.10:g.100 516642_100518248in v	GRCh37.p13	First Pass	NC_000001.10	Chr1	100,516,642	100,518,248

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)
nssv18249177	<0.001	4	35140

You are here: NCBI