A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115868



Internal ID21299134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123970028..123974912hg38UCSC Ensembl
Innerchr12:124454575..124459459hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384885
hg194885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092830
Samplessample138
Known GenesCCDC92, ZNF664, ZNF664-FAM101A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115868
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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