A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053667



Internal ID18796198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:50285256..50407969hg38UCSC Ensembl
Innerchr12:50679039..50801752hg19UCSC Ensembl
Innerchr12:48965306..49088019hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg38122714
hg19122714
hg18122714
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1498n100
Supporting Variantsnssv3523531
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)nsv1053667
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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