A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712587



Internal ID19010868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:93454853..93471056hg38UCSC Ensembl
Innerchr12:93848629..93864832hg19UCSC Ensembl
Innerchr12:92372760..92388963hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1054852
Supporting Variants
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)nssv3712587
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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