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

dbVar

Database of genomic structural variation

nsv6571657

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:1,173

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: 147 SVs from 15 studies. See in: genome view

Submitted genomic134,812,435-134,813,607

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6571657	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000008.11	Chr8	134,812,435	134,813,607
nsv6571657	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	135,824,678	135,825,850

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18277175	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18277175	Submitted genomic		NC_000008.11:g.134 812435_134813607in v	GRCh38 (hg38)		NC_000008.11	Chr8	134,812,435	134,813,607
nssv18277175	Remapped	Perfect	NC_000008.10:g.135 824678_135825850in v	GRCh37.p13	First Pass	NC_000008.10	Chr8	135,824,678	135,825,850

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)
nssv18277175	<0.001	1	36898

You are here: NCBI