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dbVar

Database of genomic structural variation

nsv5669290

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:718,357

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: 5981 SVs from 119 studies. See in: genome view

Submitted genomic45,573,689-46,292,045

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5669290	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	45,573,689	46,292,045
nsv5669290	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	43,651,055	44,369,411

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17092073	inversion	NA24385	Optical mapping, Sequencing	Optical mapping, Sequence alignment	2,573

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17092073	Submitted genomic		NC_000017.11:g.455 73689_46292045inv	GRCh38 (hg38)		NC_000017.11	Chr17	45,573,689	46,292,045
nssv17092073	Remapped	Perfect	NC_000017.10:g.436 51055_44369411inv	GRCh37.p13	First Pass	NC_000017.10	Chr17	43,651,055	44,369,411

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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