A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038563



Internal ID18781094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8191365..8296504hg38UCSC Ensembl
Innerchr12:8343961..8449100hg19UCSC Ensembl
Innerchr12:8235228..8340367hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38105140
hg19105140
hg18105140
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1359n100
Supporting Variantsnssv3510211
Samples
Known GenesFAM66C, FAM86FP, FAM90A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038563
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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