A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267857



Internal ID22187757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:61761814..61828628hg38UCSC Ensembl
Outerchr20:60336870..60403684hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381490
hg191490
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3242187
Supporting Variants
SamplesHG00731
Known GenesCDH4
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267857
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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