A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596804



Internal ID16037527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:1040990..1181441hg38UCSC Ensembl
Innerchr5:1041105..1181556hg19UCSC Ensembl
Innerchr5:1094105..1234556hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38140452
hg19140452
hg18140452
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9522n54
Supporting Variantsnssv1153287
SamplesHGDP00788
Known GenesMIR4635, SLC12A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596804
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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