A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176424



Internal ID15527391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99872025..100538490hg38UCSC Ensembl
Innerchr12:100265803..100932268hg19UCSC Ensembl
Innerchr12:98789934..99456399hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38666466
hg19666466
hg18666466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv559964
Supporting Variants
SamplesHGDP00466
Known GenesACTR6, ANKS1B, DEPDC4, GOLGA2P5, MIR1827, NR1H4, SCYL2, SLC17A8, UHRF1BP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176424
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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