A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1054480



Internal ID18797011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50297256..50465882hg38UCSC Ensembl
Innerchr12:50691039..50859665hg19UCSC Ensembl
Innerchr12:48977306..49145932hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38168627
hg19168627
hg18168627
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1499n100
Supporting Variantsnssv3523532
Samples
Known GenesFAM186A, LARP4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1054480
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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