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dbVar

Database of genomic structural variation

nsv6593453

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:5,716,485

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: 13379 SVs from 118 studies. See in: genome view

Submitted genomic66,057,683-71,774,167

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6593453	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	66,057,683	71,774,167
nsv6593453	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	66,451,463	72,167,947

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18218768	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18218768	Submitted genomic		NC_000012.12:g.660 57683_71774167inv	GRCh38 (hg38)		NC_000012.12	Chr12	66,057,683	71,774,167
nssv18218768	Remapped	Perfect	NC_000012.11:g.664 51463_72167947inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	66,451,463	72,167,947

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)
nssv18218768	<0.001	1	39304

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