A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266752



Internal ID22277035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:241567021..241597645hg38UCSC Ensembl
Outerchr2:242506436..242537060hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385450
hg195450
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227227
Supporting Variants
SamplesNA19239
Known GenesBOK, THAP4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266752
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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