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

dbVar

Database of genomic structural variation

nsv6589599

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:1,619

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: 97 SVs from 27 studies. See in: genome view

Submitted genomic120,023,725-120,025,343

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6589599	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	120,023,725	120,025,343
nsv6589599	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	120,461,529	120,463,147

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18217530	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18217530	Submitted genomic		NC_000012.12:g.120 023725_120025343in v	GRCh38 (hg38)		NC_000012.12	Chr12	120,023,725	120,025,343
nssv18217530	Remapped	Perfect	NC_000012.11:g.120 461529_120463147in v	GRCh37.p13	First Pass	NC_000012.11	Chr12	120,461,529	120,463,147

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)
nssv18217530	<0.001	3	34086

You are here: NCBI