A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599936



Internal ID16387345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:146225072..146242909hg38UCSC Ensembl
Innerchr5:145604635..145622472hg19UCSC Ensembl
Innerchr5:145584828..145602665hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3817838
hg1917838
hg1817838
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153602, nssv1153601
Samples1780854253_A, HGDP01331
Known GenesRBM27
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599936
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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