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dbVar

Database of genomic structural variation

nsv5588282

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:609

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: 549 SVs from 56 studies. See in: genome view

Submitted genomic66,553,768-66,554,376

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5588282	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	66,553,768	66,554,376
nsv5588282	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	64,221,005	64,221,613

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17101804	deletion	HG02492	Sequencing	Sequence alignment	982

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17101804	Submitted genomic		NC_000018.10:g.665 53768_66554376delG	GRCh38 (hg38)		NC_000018.10	Chr18	66,553,768	66,554,376
nssv17101804	Remapped	Perfect	NC_000018.9:g.6422 1005_64221613delG	GRCh37.p13	First Pass	NC_000018.9	Chr18	64,221,005	64,221,613

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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