A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600165



Internal ID16387574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:159670887..159898344hg38UCSC Ensembl
Innerchr5:159097894..159325351hg19UCSC Ensembl
Innerchr5:159030472..159257929hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38227458
hg19227458
hg18227458
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1154008
SamplesNINDS_39
Known GenesMIR548D2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600165
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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