A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151042



Internal ID15878476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:39054938..39248064hg38UCSC Ensembl
Innerchr2:39282079..39475205hg19UCSC Ensembl
Innerchr2:39135583..39328709hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38193127
hg19193127
hg18193127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv581495
Supporting Variants
SamplesHGDP01208
Known GenesCDKL4, SOS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151042
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