A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16916599



Internal ID11772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112409618..112417618hg38UCSC Ensembl
chr2:113167195..113175195hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6139146
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16916599
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000288


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