A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176476



Internal ID15529086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114283521..114341693hg38UCSC Ensembl
Innerchr9:117045801..117103973hg19UCSC Ensembl
Innerchr9:116085622..116143794hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3858173
hg1958173
hg1858173
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615241
Supporting Variants
SamplesHGDP00734
Known GenesAKNA, COL27A1, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1176476
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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