A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1176483



Internal ID15528155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114284841..114343856hg38UCSC Ensembl
Innerchr9:117047121..117106136hg19UCSC Ensembl
Innerchr9:116086942..116145957hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3859016
hg1959016
hg1859016
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615243
Supporting Variants
SamplesHGDP00600
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)nssv1176483
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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