A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14276216



Internal ID22198594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75106189..75133453hg38UCSC Ensembl
Outerchr5:74402014..74429278hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384169
hg194169
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220368
Supporting Variants
SamplesHG00732
Known GenesANKRD31
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14276216
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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