A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115282



Internal ID21298548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113928405..113931755hg38UCSC Ensembl
Innerchr1:114471027..114474377hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg383351
hg193351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv66n145
Supporting Variantsnssv14097299
Samplessample139
Known GenesHIPK1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115282
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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