A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257210



Internal ID22132054
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212872
Supporting Variants
SamplesHG00513
Known GenesELMSAN1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257210
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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