A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217800



Internal ID22363348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:69549290..69570107hg38UCSC Ensembl
Outerchr14:70016007..70036824hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3820818
hg1920818
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14257203, nssv14257202, nssv14257201
SamplesNA19238, HG00732, NA19240
Known GenesCCDC177
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217800
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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