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dbVar

Database of genomic structural variation

nsv6590583

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:458

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: 99 SVs from 22 studies. See in: genome view

Submitted genomic122,782,560-122,783,017

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6590583	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	122,782,560	122,783,017
nsv6590583	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	123,267,107	123,267,564

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18233230	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18233230	Submitted genomic		NC_000012.12:g.122 782560_122783017in v	GRCh38 (hg38)		NC_000012.12	Chr12	122,782,560	122,783,017
nssv18233230	Remapped	Perfect	NC_000012.11:g.123 267107_123267564in v	GRCh37.p13	First Pass	NC_000012.11	Chr12	123,267,107	123,267,564

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)
nssv18233230	<0.001	1	36212

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