A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265520



Internal ID22120866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:121503092..121517364hg38UCSC Ensembl
Outerchr2:122260668..122274940hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3814273
hg1914273
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3194718
Supporting Variants
SamplesHG00512
Known GenesCLASP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265520
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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