A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3219950



Internal ID22364805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:28386672..28412566hg38UCSC Ensembl
Outerchr14:28855878..28881772hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3825895
hg1925895
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258345, nssv14258344, nssv14258343
SamplesHG00512, NA19240, HG00514
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3219950
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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