A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614548



Internal ID16055271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68856996..69320661hg38UCSC Ensembl
Innerchr9:71471912..71935577hg19UCSC Ensembl
Innerchr9:70661732..71125397hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38463666
hg19463666
hg18463666
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1134761
Samples
Known GenesBANCR, FXN, PIP5K1B, PRKACG, TJP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614548
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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