A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266155



Internal ID22224161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65502466..65538188hg38UCSC Ensembl
Outerchr2:65729600..65765322hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg382610
hg192610
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224246
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266155
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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