A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044791



Internal ID18787322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93470089..93489946hg38UCSC Ensembl
Innerchr12:93863865..93883722hg19UCSC Ensembl
Innerchr12:92387996..92407853hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3819858
hg1919858
hg1819858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3524827
Samples
Known GenesMRPL42
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044791
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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