A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597934



Internal ID16038657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44803647..44834131hg38UCSC Ensembl
Innerchr5:44803749..44834233hg19UCSC Ensembl
Innerchr5:44839506..44869990hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3830485
hg1930485
hg1830485
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153533
SamplesHGDP00805
Known GenesMRPS30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597934
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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