A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557812



Internal ID15998535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495478..27502164hg38UCSC Ensembl
Innerchr12:27648411..27655097hg19UCSC Ensembl
Innerchr12:27539678..27546364hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg386687
hg196687
hg186687
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2419n54
Supporting Variantsnssv789899, nssv789910, nssv789895, nssv789948, nssv789934, nssv789930, nssv789890, nssv789917, nssv789919, nssv789901, nssv789916, nssv789941, nssv789942, nssv789932, nssv789935, nssv789923, nssv789946, nssv789888, nssv789903, nssv789898, nssv789921, nssv789937, nssv789911, nssv789928, nssv789925, nssv789943, nssv789945, nssv789897, nssv789913, nssv789905, nssv789900, nssv789938, nssv789922, nssv789931, nssv789939, nssv789896, nssv789892, nssv789918, nssv789893, nssv789907, nssv789936, nssv789926, nssv789906, nssv789908, nssv789927, nssv789902, nssv789915, nssv789929, nssv789944, nssv789924, nssv789920, nssv789912, nssv789933, nssv789904, nssv789940, nssv789891, nssv789914, nssv789894, nssv789947, nssv789889, nssv789909
Samples
Known GenesSMCO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557812
Frequency
Sample Size17421
Observed Gain0
Observed Loss61
Observed Complex0
Frequencyn/a


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