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

dbVar

Database of genomic structural variation

nsv6550813

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:57,504

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: 227 SVs from 36 studies. See in: genome view

Submitted genomic153,406,708-153,464,211

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6550813	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	153,406,708	153,464,211
nsv6550813	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	153,379,184	153,436,687

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18247045	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18247045	Submitted genomic		NC_000001.11:g.153 406708_153464211in v	GRCh38 (hg38)		NC_000001.11	Chr1	153,406,708	153,464,211
nssv18247045	Remapped	Perfect	NC_000001.10:g.153 379184_153436687in v	GRCh37.p13	First Pass	NC_000001.10	Chr1	153,379,184	153,436,687

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)
nssv18247045	<0.001	1	39304

You are here: NCBI