A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266836



Internal ID22121360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:22961883..22969321hg38UCSC Ensembl
Outerchr2:23184755..23192193hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg386014
hg196014
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3213092
Supporting Variants
SamplesHG00512
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266836
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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