A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041279



Internal ID18783810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8191365..8277383hg38UCSC Ensembl
Innerchr12:8343961..8429979hg19UCSC Ensembl
Innerchr12:8235228..8321246hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3886019
hg1986019
hg1886019
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1359n100
Supporting Variantsnssv3708227
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)nsv1041279
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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