A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3224019



Internal ID22367596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:91491638..91498694hg38UCSC Ensembl
Outerchr14:91957982..91965038hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg387057
hg197057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14258332, nssv14258333
SamplesNA19239, NA19240
Known GenesSMEK1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3224019
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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