A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14270251



Internal ID22204581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:131977033..131998430hg38UCSC Ensembl
Outerchr3:131695877..131717274hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg3821398
hg1921398
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210114
Supporting Variants
SamplesHG00732
Known GenesCPNE4, MIR5704
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14270251
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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