A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14257936



Internal ID22271756
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3245686
Supporting Variants
SamplesNA19239
Known GenesEML1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14257936
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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