A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599527



Internal ID16386936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:118307640..118437000hg38UCSC Ensembl
Innerchr5:117643335..117772695hg19UCSC Ensembl
Innerchr5:117671234..117800594hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38129361
hg19129361
hg18129361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10038n54
Supporting Variantsnssv1040739
Samples
Known GenesLOC101927280
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599527
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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