A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3238565



Internal ID22374195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63929953..63942349hg38UCSC Ensembl
Outerchr20:62561306..62573702hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381024
hg191024
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14268089, nssv14268091, nssv14268090
SamplesHG00732, HG00733, HG00514
Known GenesDNAJC5, MIR1914, UCKL1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3238565
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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