A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048801



Internal ID18791332
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 StatusM
Merged Variants
Supporting Variantsnssv3526092, nssv3526091
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)nsv1048801
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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