A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526198



Internal ID18824479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130407618..130447144hg38UCSC Ensembl
Innerchr12:130892163..130931689hg19UCSC Ensembl
Innerchr12:129458116..129497642hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3839527
hg1939527
hg1839527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1044909
Supporting Variants
Samples
Known GenesRIMBP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526198
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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