A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257207



Internal ID22255795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73510967..73573099hg38UCSC Ensembl
Outerchr14:73977671..74039803hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3862133
hg1962133
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3218836
Supporting Variants
SamplesNA19238
Known GenesACOT1, ACOT2, HEATR4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257207
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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