A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526191



Internal ID18824472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129762064..129826112hg38UCSC Ensembl
Innerchr12:130246609..130310657hg19UCSC Ensembl
Innerchr12:128812562..128876610hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3864049
hg1964049
hg1864049
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1046019
Supporting Variants
Samples
Known GenesTMEM132D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526191
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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