A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526092



Internal ID18477687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121257719..121376901hg38UCSC Ensembl
Innerchr12:121695522..121814704hg19UCSC Ensembl
Innerchr12:120179905..120299087hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38119183
hg19119183
hg18119183
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1048801
Supporting Variants
Samples
Known GenesANAPC5, CAMKK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526092
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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