A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10428



Internal ID15498705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103560606..103764036hg38UCSC Ensembl
Outerchr1:104103228..104306658hg19UCSC Ensembl
Outerchr1:103904751..104108181hg18UCSC Ensembl
Outerchr1:103815249..104018679hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg38203431
hg19203431
hg18203431
hg17203431
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14738, nssv13085, nssv13745, nssv18780, nssv15446, nssv17413, nssv16761, nssv16427, nssv14097, nssv13435, nssv13105, nssv14732, nssv14422, nssv13415, nssv21083, nssv19744, nssv15098, nssv15758, nssv15423, nssv13417, nssv15118, nssv15096, nssv13767, nssv16088, nssv14092, nssv15436, nssv14411, nssv14754, nssv15428, nssv14081, nssv15451, nssv16418, nssv13751, nssv15092, nssv15760, nssv18089, nssv15116, nssv20404, nssv13747, nssv16095, nssv15114, nssv21413, nssv19094, nssv18434, nssv13765, nssv13762, nssv17087, nssv15766, nssv20734, nssv18764, nssv20753, nssv15444, nssv20074, nssv17083, nssv15776, nssv16757
SamplesNA12802, NA18975, NA19173, NA10839, NA10847, NA18972, NA18517, NA19144, NA18860, NA07029, NA10863, NA12155, NA18563, NA07048, NA18537, NA12872, NA18504, NA18942, NA19221, NA18552, NA19132, NA11830, NA19240, NA19007, NA18980
Known GenesACTG1P4, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10428
Frequency
Sample Size31
Observed Gain19
Observed Loss7
Observed Complex0
Frequencyn/a


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