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dbVar

Database of genomic structural variation

nsv6589195

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:8,282,666

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: 19184 SVs from 126 studies. See in: genome view

Submitted genomic57,775,018-66,057,683

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6589195	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	57,775,018	66,057,683
nsv6589195	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	58,168,801	66,451,463

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18220749	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18220749	Submitted genomic		NC_000012.12:g.577 75018_66057683inv	GRCh38 (hg38)		NC_000012.12	Chr12	57,775,018	66,057,683
nssv18220749	Remapped	Perfect	NC_000012.11:g.581 68801_66451463inv	GRCh37.p13	First Pass	NC_000012.11	Chr12	58,168,801	66,451,463

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)
nssv18220749	<0.001	1	39298

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