A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14265522



Internal ID22120870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:147157095..147192022hg38UCSC Ensembl
Outerchr2:147914663..147949590hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg3834928
hg1934928
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193356
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14265522
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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