A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3222601



Internal ID22366630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:81401473..81414501hg38UCSC Ensembl
Outerchr14:81867817..81880845hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3813029
hg1913029
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258324, nssv14258323
SamplesHG00512, NA19239
Known GenesSTON2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3222601
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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