A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14268125



Internal ID22208327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:59573777..59589972hg38UCSC Ensembl
Outerchr20:58148832..58165027hg19UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38409
hg19409
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231957
Supporting Variants
SamplesHG00732
Known GenesPHACTR3
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14268125
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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