A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17536084



Internal ID21860439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112432928..112433107hg38UCSC Ensembl
chr2:113190505..113190684hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5985442
Supporting Variants
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17536084
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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