A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546788



Internal ID15987511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89011229..89012749hg38UCSC Ensembl
Innerchr1:89476912..89478432hg19UCSC Ensembl
Innerchr1:89249500..89251020hg18UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381521
hg191521
hg181521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv362n54
Supporting Variantsnssv718902, nssv718977, nssv718961, nssv718875, nssv718874, nssv718929, nssv718932, nssv718948, nssv718911, nssv718960, nssv718883, nssv718944, nssv718919, nssv718894, nssv718979, nssv718905, nssv718935, nssv718917, nssv718876, nssv718879, nssv718983, nssv718925, nssv718899, nssv718896, nssv718959, nssv718927, nssv718898, nssv718949, nssv718947, nssv718918, nssv718953, nssv718868, nssv718914, nssv718964, nssv718915, nssv718904, nssv718909, nssv718872, nssv718982, nssv718965, nssv718939, nssv718981, nssv718871, nssv718931, nssv718950, nssv718966, nssv718971, nssv718962, nssv718980, nssv718861, nssv718928, nssv718985, nssv718933, nssv718886, nssv718968, nssv718970, nssv718877, nssv718942, nssv718880, nssv718975, nssv718957, nssv718890, nssv718873, nssv718864, nssv718895, nssv718943, nssv718974, nssv718934, nssv718976, nssv718887, nssv718924, nssv718913, nssv718869, nssv718863, nssv718956, nssv718963, nssv718906, nssv718893, nssv718988, nssv718954, nssv718926, nssv718885, nssv718910, nssv718891, nssv718941, nssv718955, nssv718878, nssv718865, nssv718987, nssv718866, nssv718907, nssv718882, nssv718936, nssv718972, nssv718967, nssv718881, nssv718978, nssv718897, nssv718951, nssv718952, nssv718969, nssv718938, nssv718884, nssv718908, nssv718958, nssv718860, nssv718945, nssv718986, nssv718920, nssv718889, nssv718912, nssv718867, nssv718922, nssv718901, nssv718862, nssv718937, nssv718923, nssv718892, nssv718888, nssv718984, nssv718870, nssv718900, nssv718973, nssv718916, nssv718946, nssv718940, nssv718930, nssv718921, nssv718903
Samples
Known GenesGBP3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546788
Frequency
Sample Size17421
Observed Gain0
Observed Loss129
Observed Complex0
Frequencyn/a


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