A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594549



Internal ID16381958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68549226..68614875hg38UCSC Ensembl
Innerchr4:69414944..69480593hg19UCSC Ensembl
Innerchr4:69097539..69163188hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3865650
hg1965650
hg1865650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9109n54
Supporting Variantsnssv1002085, nssv1002062, nssv1002104, nssv1002067, nssv1002119, nssv1002052, nssv1002053, nssv1002113, nssv1002074, nssv1002082, nssv1002039, nssv1002133, nssv1002064, nssv1002083, nssv1002123, nssv1002108, nssv1002078, nssv1002080, nssv1002068, nssv1002116, nssv1002109, nssv1002056, nssv1002037, nssv1002079, nssv1002041, nssv1002066, nssv1002045, nssv1002101, nssv1002115, nssv1002040, nssv1002087, nssv1002088, nssv1002093, nssv1002077, nssv1002102, nssv1002075, nssv1002124, nssv1002132, nssv1002044, nssv1002072, nssv1002061, nssv1002125, nssv1002135, nssv1002107, nssv1002100, nssv1002092, nssv1002063, nssv1002095, nssv1002070, nssv1002058, nssv1002047, nssv1002098, nssv1002049, nssv1002036, nssv1002131, nssv1002065, nssv1002091, nssv1002103, nssv1002094, nssv1002038, nssv1002043, nssv1002097, nssv1002136, nssv1002086, nssv1002081, nssv1002060, nssv1002127, nssv1002126, nssv1002096, nssv1002050, nssv1002073, nssv1002099, nssv1002071, nssv1002137, nssv1002034, nssv1002122, nssv1002114, nssv1002121, nssv1002046, nssv1002042, nssv1002128, nssv1002106, nssv1002035, nssv1002117, nssv1002054, nssv1002111, nssv1002059, nssv1002048, nssv1002130, nssv1002118, nssv1002129, nssv1002120, nssv1002069, nssv1002057, nssv1002090, nssv1002051, nssv1002105, nssv1002134, nssv1002110, nssv1002055, nssv1002084, nssv1002089, nssv1002076, nssv1002112
Samples
Known GenesUGT2B17
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594549
Frequency
Sample Size17421
Observed Gain0
Observed Loss104
Observed Complex0
Frequencyn/a


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