A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598531



Internal ID16039254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70367799..70481983hg38UCSC Ensembl
Innerchr5:69663626..69777810hg19UCSC Ensembl
Innerchr5:69699382..69813566hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38114185
hg19114185
hg18114185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9854n54
Supporting Variantsnssv1034913
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598531
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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