A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13680173



Internal ID21202036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86544956..86545072hg38UCSC Ensembl
chr2:86772079..86772195hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2806589
Supporting Variants
Samples
Known GenesCHMP3, RNF103-CHMP3
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13680173
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.630435


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