A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596788



Internal ID16384197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:992394..1067420hg38UCSC Ensembl
Innerchr5:992509..1067535hg19UCSC Ensembl
Innerchr5:1045509..1120535hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3875027
hg1975027
hg1875027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153284
SamplesHGDP00546
Known GenesLOC100506688, MIR4635, NKD2, SLC12A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596788
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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