A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599664



Internal ID16387073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127638379..127680564hg38UCSC Ensembl
Innerchr5:126974071..127016256hg19UCSC Ensembl
Innerchr5:127001970..127044155hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3842186
hg1942186
hg1842186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1032093
Samples
Known GenesCTXN3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599664
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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