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dbVar

Database of genomic structural variation

nsv6587650

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:4,037

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: 108 SVs from 29 studies. See in: genome view

Submitted genomic118,071,393-118,075,429

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6587650	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000012.12	Chr12	118,071,393	118,075,429
nsv6587650	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000012.11	Chr12	118,509,198	118,513,234

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18219505	inversion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18219505	Submitted genomic		NC_000012.12:g.118 071393_118075429in v	GRCh38 (hg38)		NC_000012.12	Chr12	118,071,393	118,075,429
nssv18219505	Remapped	Perfect	NC_000012.11:g.118 509198_118513234in v	GRCh37.p13	First Pass	NC_000012.11	Chr12	118,509,198	118,513,234

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)
nssv18219505	<0.001	1	39304

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