A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599950



Internal ID16387359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:149826067..149852962hg38UCSC Ensembl
Innerchr5:149205630..149232525hg19UCSC Ensembl
Innerchr5:149185823..149212718hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3826896
hg1926896
hg1826896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153608
SamplesNINDS_51
Known GenesPPARGC1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599950
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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