A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3526208



Internal ID18824489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130705898..130750089hg38UCSC Ensembl
Innerchr12:131190443..131234634hg19UCSC Ensembl
Innerchr12:129756396..129800587hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3844192
hg1944192
hg1844192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1047320
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3526208
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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