A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5990573



Internal ID21899916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86544975..86545091hg38UCSC Ensembl
chr2:86772098..86772214hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521966
Samples
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5990573
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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