A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176434



Internal ID15878579
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:131370928..131635702hg38UCSC Ensembl
Innerchr12:131855473..132120247hg19UCSC Ensembl
Innerchr12:130421426..130686200hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38264775
hg19264775
hg18264775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560833
Supporting Variants
SamplesHGDP01228
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176434
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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