A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615235



Internal ID16402644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114195864..114604781hg38UCSC Ensembl
Innerchr9:116958144..117367061hg19UCSC Ensembl
Innerchr9:115997965..116406882hg18UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38408918
hg19408918
hg18408918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12859n54
Supporting Variantsnssv1141265
Samples
Known GenesAKNA, ATP6V1G1, 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)nsv615235
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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