A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3245600



Internal ID22376191
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:1251099..1272181hg38UCSC Ensembl
Outerchr20:1231743..1252825hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268112
SamplesHG00732
Known GenesRAD21L1, SNPH
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3245600
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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