A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599949



Internal ID16387358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149816766..149832947hg38UCSC Ensembl
Innerchr5:149196329..149212510hg19UCSC Ensembl
Innerchr5:149176522..149192703hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3816182
hg1916182
hg1816182
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153607
SamplesHGDP00832
Known GenesPPARGC1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599949
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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