A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14267828



Internal ID22121652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:58689551..58708474hg38UCSC Ensembl
Outerchr20:57264607..57283530hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg381019
hg191019
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3237603
Supporting Variants
SamplesHG00512
Known GenesNPEPL1, STX16-NPEPL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14267828
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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