A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526211



Internal ID18824492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130993694..131329259hg38UCSC Ensembl
Innerchr12:131478239..131813804hg19UCSC Ensembl
Innerchr12:130044192..130379757hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38335566
hg19335566
hg18335566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1036192
Supporting Variants
Samples
Known GenesGPR133, LOC116437
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526211
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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