A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3227778



Internal ID22370167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:34613230..34668085hg38UCSC Ensembl
Outerchr20:33201034..33255889hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3854856
hg1954856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14266679, nssv14266680, nssv14266682, nssv14266683, nssv14266861, nssv14266677, nssv14266678, nssv14266681
SamplesHG00512, NA19238, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesPIGU
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3227778
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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