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dbVar

Database of genomic structural variation

nsv6552768

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:1,255,899

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: 3543 SVs from 109 studies. See in: genome view

Submitted genomic130,208,252-131,464,150

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6552768	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	130,208,252	131,464,150
nsv6552768	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	130,965,825	132,221,723

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18255231	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18255231	Submitted genomic		NC_000002.12:g.130 208252_131464150in v	GRCh38 (hg38)		NC_000002.12	Chr2	130,208,252	131,464,150
nssv18255231	Remapped	Perfect	NC_000002.11:g.130 965825_132221723in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	130,965,825	132,221,723

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)
nssv18255231	0.003	98	32212

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