A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517129



Internal ID15444422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54213432..54247206hg38UCSC Ensembl
Innerchr19:54717301..54751065hg19UCSC Ensembl
Innerchr19:59409113..59442877hg18UCSC Ensembl
Innerchr19:59409113..59442877hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3833775
hg1933765
hg1833765
hg1733765
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682402, nssv691626, nssv659938, nssv693663, nssv683648, nssv668829, nssv671294, nssv660372, nssv656823, nssv682655, nssv662045, nssv672705, nssv667945, nssv671938, nssv658717, nssv663149, nssv655148, nssv698043, nssv667573, nssv686738, nssv659398, nssv661275, nssv678220, nssv692649, nssv669529, nssv652383, nssv676215, nssv653608, nssv679048, nssv656335, nssv687868, nssv685181, nssv684358, nssv656973, nssv693166, nssv683949, nssv654402, nssv693228, nssv654955, nssv653823, nssv654932, nssv665444, nssv652897, nssv675524, nssv658674, nssv690776, nssv670204, nssv689578, nssv653159, nssv675562, nssv654100, nssv675728, nssv668551, nssv676744, nssv663702, nssv654006, nssv681970, nssv686553, nssv670164, nssv685372, nssv666394, nssv673401, nssv668174, nssv658253, nssv690101, nssv681577, nssv669034, nssv664982, nssv659835, nssv656782, nssv676381, nssv666824, nssv680083, nssv675965, nssv659223, nssv660711, nssv659872, nssv656118, nssv683449, nssv662100, nssv669274, nssv663127, nssv668879, nssv680647, nssv674562, nssv683593, nssv657788, nssv696766, nssv684278, nssv681254, nssv683020, nssv661167, nssv669623, nssv653172, nssv681506, nssv674308, nssv673901, nssv660016, nssv666436, nssv678008, nssv680042, nssv676325, nssv651744, nssv664033, nssv668352, nssv666344, nssv673673, nssv670912, nssv692708, nssv675058, nssv680348, nssv657989, nssv659336
Samples
Known GenesLILRA6, LILRB3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517129
Frequency
Sample Size2026
Observed Gain30
Observed Loss83
Observed Complex0
Frequencyn/a


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