A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1153998



Internal ID15872907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:130021159..130081234hg38UCSC Ensembl
Innerchr5:129356852..129416927hg19UCSC Ensembl
Innerchr5:129384751..129444826hg18UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3860076
hg1960076
hg1860076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv599706
Supporting Variants
SamplesHGDP00070
Known GenesCHSY3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1153998
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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