A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615233



Internal ID16055956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114167820..114486199hg38UCSC Ensembl
Innerchr9:116930100..117248479hg19UCSC Ensembl
Innerchr9:115969921..116288300hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38318380
hg19318380
hg18318380
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1141264
Samples
Known GenesAKNA, COL27A1, DFNB31, MIR455, ORM1, ORM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615233
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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