A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599378



Internal ID16386787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112603917..112608238hg38UCSC Ensembl
Innerchr5:111939614..111943935hg19UCSC Ensembl
Innerchr5:111967513..111971834hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg384322
hg194322
hg184322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10006n54
Supporting Variantsnssv1040289, nssv1040285, nssv1040288, nssv1040283, nssv1040280, nssv1040286, nssv1040287, nssv1040281, nssv1040282, nssv1040284
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599378
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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