A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267424



Internal ID22226160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:78755627..78772955hg38UCSC Ensembl
Outerchr2:78982753..79000081hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385328
hg195328
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228684
Supporting Variants
SamplesHG00733
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267424
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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