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dbVar

Database of genomic structural variation

nsv6555058

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:1,303,827

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: 3799 SVs from 109 studies. See in: genome view

Submitted genomic130,185,479-131,489,305

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6555058	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	130,185,479	131,489,305
nsv6555058	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	130,943,052	132,246,878

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18255230	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18255230	Submitted genomic		NC_000002.12:g.130 185479_131489305in v	GRCh38 (hg38)		NC_000002.12	Chr2	130,185,479	131,489,305
nssv18255230	Remapped	Perfect	NC_000002.11:g.130 943052_132246878in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	130,943,052	132,246,878

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)
nssv18255230	0.198	4417	22284

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