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

dbVar

Database of genomic structural variation

nsv6584140

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:9,676,015

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: 22800 SVs from 129 studies. See in: genome view

Submitted genomic56,381,670-66,057,684

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6584140	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	56,381,670	66,057,684
nsv6584140	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	56,775,454	66,451,464

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18225109	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18225109	Submitted genomic		NC_000012.12:g.563 81670_66057684inv	GRCh38 (hg38)		NC_000012.12	Chr12	56,381,670	66,057,684
nssv18225109	Remapped	Perfect	NC_000012.11:g.567 75454_66451464inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	56,775,454	66,451,464

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)
nssv18225109	<0.001	2	38700

You are here: NCBI