A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526212



Internal ID18824493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131005452..131381854hg38UCSC Ensembl
Innerchr12:131489997..131866399hg19UCSC Ensembl
Innerchr12:130055950..130432352hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38376403
hg19376403
hg18376403
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1053022
Supporting Variants
Samples
Known GenesGPR133, LOC116437, LOC338797
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526212
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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