A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111012



Internal ID21294278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:67422824..67426856hg38UCSC Ensembl
Innerchr17:65418940..65422972hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg384033
hg194033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv505n145
Supporting Variantsnssv14098122
Samplessample83
Known GenesPITPNC1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111012
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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