A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3509808



Internal ID18461403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27140218..27635088hg38UCSC Ensembl
Innerchr12:27293151..27788021hg19UCSC Ensembl
Innerchr12:27184418..27679288hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38494871
hg19494871
hg18494871
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1043309
Supporting Variants
Samples
Known GenesARNTL2, PPFIBP1, SMCO2, STK38L
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3509808
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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