A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257232



Internal ID22132066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104933226..104959403hg38UCSC Ensembl
Outerchr14:105399563..105425740hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3826178
hg1926178
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216997
Supporting Variants
SamplesHG00513
Known GenesAHNAK2, PLD4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257232
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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