A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597171



Internal ID16384580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:12786868..12892253hg38UCSC Ensembl
Innerchr5:12786980..12892365hg19UCSC Ensembl
Innerchr5:12839980..12945365hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38105386
hg19105386
hg18105386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9586n54
Supporting Variantsnssv1025314
Samples
Known GenesCT49
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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