A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598089



Internal ID16385498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50145767..50251254hg38UCSC Ensembl
Innerchr5:49441601..49547088hg19UCSC Ensembl
Innerchr5:49477358..49582845hg18UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg38105488
hg19105488
hg18105488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030142
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598089
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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