A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14408602



Internal ID22306744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86544994..86545112hg38UCSC Ensembl
chr2:86772117..86772235hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3279867
Supporting Variants
SamplesNA19240
Known GenesCHMP3, RNF103-CHMP3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
CommentsSequences at least 70% masked by tandem repeat finder or contained within a tandem repeat
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14408602
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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