A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052330



Internal ID18794861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27482662..27506809hg38UCSC Ensembl
Innerchr12:27635595..27659742hg19UCSC Ensembl
Innerchr12:27526862..27551009hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3824148
hg1924148
hg1824148
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3519156
Samples
Known GenesSMCO2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1052330
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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