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dbVar

Database of genomic structural variation

nsv6550481

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:1,340,420

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: 3911 SVs from 110 studies. See in: genome view

Submitted genomic130,166,764-131,507,183

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6550481	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	130,166,764	131,507,183
nsv6550481	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	130,924,337	132,264,756

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18255228	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18255228	Submitted genomic		NC_000002.12:g.130 166764_131507183in v	GRCh38 (hg38)		NC_000002.12	Chr2	130,166,764	131,507,183
nssv18255228	Remapped	Perfect	NC_000002.11:g.130 924337_132264756in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	130,924,337	132,264,756

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)
nssv18255228	<0.001	4	24620

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