A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592649



Internal ID16033372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:178944026..179168821hg38UCSC Ensembl
Innerchr3:178661814..178886609hg19UCSC Ensembl
Innerchr3:180144508..180369303hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38224796
hg19224796
hg18224796
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152552
SamplesHGDP00100
Known GenesPIK3CA, ZMAT3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592649
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer