A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526096



Internal ID18824377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123472202..123538522hg38UCSC Ensembl
Innerchr12:123956749..124023069hg19UCSC Ensembl
Innerchr12:122522702..122589022hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3866321
hg1966321
hg1866321
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1037260
Supporting Variants
Samples
Known GenesMIR3908, RILPL1, SNRNP35
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526096
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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