A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14259458



Internal ID22183736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:60324644..60353916hg38UCSC Ensembl
Outerchr15:60616843..60646115hg19UCSC Ensembl
Cytoband15q22.2
Allele length
AssemblyAllele length
hg38924
hg19924
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230937
Supporting Variants
SamplesHG00731
Known GenesANXA2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14259458
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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