A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3235595



Internal ID22373337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:45805120..45806520hg38UCSC Ensembl
Outerchr20:44433759..44435159hg19UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg38681
hg19681
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267047
SamplesHG00512
Known GenesDNTTIP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3235595
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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