A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3244271



Internal ID22375815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:63941320..63954581hg38UCSC Ensembl
Outerchr20:62572673..62585934hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg382071
hg192071
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14267516, nssv14267523, nssv14267520, nssv14267515, nssv14267519, nssv14267521, nssv14267518, nssv14267517, nssv14267522
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMIR1914, MIR647, UCKL1, UCKL1-AS1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3244271
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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