A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3212872



Internal ID22359990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73771550..73786271hg38UCSC Ensembl
Outerchr14:74238253..74252974hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3814722
hg1914722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257212, nssv14257210, nssv14257211
SamplesNA19238, HG00513, HG00514
Known GenesELMSAN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3212872
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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