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dbVar

Database of genomic structural variation

nsv5665937

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:inversion
Method Type:Optical mapping, Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,393,107

Publication(s):Ebert et al. 2021

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: 4316 SVs from 113 studies. See in: genome view

Submitted genomic130,138,213-131,531,319

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5665937	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000002.12	Chr2	130,138,213	131,531,319
nsv5665937	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	130,895,786	132,288,892

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17108404	inversion	SAMN00801888	Optical mapping, Sequencing	Optical mapping, Sequence alignment	2,004

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17108404	Submitted genomic		NC_000002.12:g.130 138213_131531319in v	GRCh38 (hg38)		NC_000002.12	Chr2	130,138,213	131,531,319
nssv17108404	Remapped	Perfect	NC_000002.11:g.130 895786_132288892in v	GRCh37.p13	First Pass	NC_000002.11	Chr2	130,895,786	132,288,892

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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