A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599405



Internal ID16386814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113629448..113646953hg38UCSC Ensembl
Innerchr5:112965145..112982650hg19UCSC Ensembl
Innerchr5:112993044..113010549hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3817506
hg1917506
hg1817506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10011n54
Supporting Variantsnssv1153582, nssv1040403
SamplesHGDP00642
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599405
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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