A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3217927



Internal ID22363438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:47181891..47186023hg38UCSC Ensembl
Outerchr1:47647563..47651695hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg38961
hg19961
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14261931, nssv14261934, nssv14261930, nssv14261933, nssv14261932, nssv14261929, nssv14261935
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00513, HG00514
Known GenesPDZK1IP1
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3217927
Frequency
Sample Size9
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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