A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14266162



Internal ID22231676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:65577072..65619831hg38UCSC Ensembl
Outerchr2:65804206..65846965hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381276
hg191276
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3227816
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14266162
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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