A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598540



Internal ID16039263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70449555..70466786hg38UCSC Ensembl
Innerchr5:69745382..69762613hg19UCSC Ensembl
Innerchr5:69781138..69798369hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3817232
hg1917232
hg1817232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034922
Samples
Known GenesGTF2H2B, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598540
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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