A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228686



Internal ID22370790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51976560..51990259hg38UCSC Ensembl
Outerchr6:51841358..51855057hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381572
hg191572
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14276572, nssv14276574, nssv14276571, nssv14276570, nssv14276569, nssv14276567, nssv14276575, nssv14276573, nssv14276568
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPKHD1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228686
Frequency
Sample Size9
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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