A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245686



Internal ID22376213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99923487..99978460hg38UCSC Ensembl
Outerchr14:100389824..100444797hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381681
hg191681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2742n152
Supporting Variantsnssv14257935, nssv14257936, nssv14257937
SamplesNA19238, NA19239, NA19240
Known GenesEML1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245686
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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