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dbVar

Database of genomic structural variation

nsv6583229

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:229

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

Submitted genomic122,814,298-122,814,526

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6583229	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	122,814,298	122,814,526
nsv6583229	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	123,298,845	123,299,073

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18230990	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18230990	Submitted genomic		NC_000012.12:g.122 814298_122814526in v	GRCh38 (hg38)		NC_000012.12	Chr12	122,814,298	122,814,526
nssv18230990	Remapped	Perfect	NC_000012.11:g.123 298845_123299073in v	GRCh37.p13	First Pass	NC_000012.11	Chr12	123,298,845	123,299,073

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)
nssv18230990	<0.001	3	36266

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