A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594558



Internal ID16381967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68575796..68626968hg38UCSC Ensembl
Innerchr4:69441514..69492686hg19UCSC Ensembl
Innerchr4:69124109..69175281hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3851173
hg1951173
hg1851173
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9110n54
Supporting Variantsnssv992715, nssv992714, nssv992719, nssv992712, nssv992716, nssv992722, nssv992720, nssv992723, nssv992725, nssv992713, nssv992721, nssv992717, nssv992710, nssv992724, nssv992711, nssv992718
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594558
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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