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dbVar

Database of genomic structural variation

nsv5590520

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:51

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: 174 SVs from 31 studies. See in: genome view

Submitted genomic40,978,598-40,978,648

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5590520	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	40,978,598	40,978,648
nsv5590520	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	39,134,850	39,134,900

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17095226	deletion	HG02818	Sequencing	Sequence alignment	3,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17095226	Submitted genomic		NC_000017.11:g.409 78598_40978648delC	GRCh38 (hg38)		NC_000017.11	Chr17	40,978,598	40,978,648
nssv17095226	Remapped	Perfect	NC_000017.10:g.391 34850_39134900delC	GRCh37.p13	First Pass	NC_000017.10	Chr17	39,134,850	39,134,900

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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