A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000736



Internal ID18743267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45874711..45915665hg38UCSC Ensembl
Innerchr2:46101850..46142804hg19UCSC Ensembl
Innerchr2:45955354..45996308hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3840955
hg1940955
hg1840955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3581623
Samples
Known GenesPRKCE
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1000736
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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