A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv471651



Internal ID15214470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7872468..8172828hg38UCSC Ensembl
Innerchr8:7729990..8030350hg19UCSC Ensembl
Innerchr8:7767400..8067760hg18UCSC Ensembl
Innerchr8:7767400..8067760hg16UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38300361
hg19300361
hg18300361
hg16300361
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv551051, nssv549330, nssv550935, nssv550568, nssv551053, nssv550914, nssv550917, nssv551060, nssv550561, nssv549314, nssv551056, nssv549325, nssv549348, nssv551063, nssv549320, nssv550921, nssv550560, nssv550565, nssv549324, nssv550923, nssv549315, nssv549337, nssv551050, nssv551046, nssv549339, nssv549317, nssv549349, nssv550939, nssv549333, nssv550922, nssv549342, nssv550909, nssv550918, nssv550562, nssv550936, nssv550564, nssv550907, nssv550931, nssv551044, nssv549334, nssv549332, nssv550925, nssv549319, nssv549327, nssv549335, nssv550928, nssv549331, nssv550940, nssv551059, nssv551052, nssv550930, nssv550563, nssv551061, nssv549346, nssv550913, nssv549326, nssv551058, nssv550933, nssv551047, nssv549312, nssv549318, nssv550919, nssv550915, nssv551049, nssv550934, nssv549322, nssv550938, nssv551062, nssv551065, nssv551054, nssv549347, nssv549329, nssv550916, nssv550566, nssv549313, nssv551055, nssv550908, nssv549328, nssv550927, nssv551057, nssv550911, nssv550557, nssv550567, nssv549343, nssv550558, nssv551048, nssv549336, nssv550920, nssv550556, nssv549344, nssv549341, nssv550932, nssv549321, nssv549323, nssv550912, nssv550910, nssv551045, nssv550929, nssv549340, nssv550926, nssv550937, nssv549316, nssv551064, nssv550569, nssv550924, nssv550559, nssv549338
SamplesNA15727, JK1058B, NA17016, NA11776, NA11323, NA10494, NA16689, NA11521, NA10496, NA17020, NA10976, NA15724, NA15728, NA10473, NA11523, NA15732, NA10970, NA10471, NA15730, NA10469, NA10967, NA16688, NA10969, NA15726, NA15725, NA17059, JK1061, JK1688B, JK1051A, NA17015, NA10495, NA17014, NA17051, NA15729, NA10492, NA10979, NA17017, NA15731, NA10971, NA15733, NA10472
Known GenesDEFB103A, DEFB103B, DEFB109P1B, DEFB4A, FAM66E, MIR548I3, USP17L3, USP17L8, ZNF705B
MethodBAC aCGH
AnalysisArray image analysis and normalization were performed using UCSF Spot and Sproc software (Jain et al. 2002). BACs for which only one of the triplicates printed on the array yielded data, or for which the standard deviation of log2 ratio for the triplicates was 10.2, were removed from final analysis. Furthermore, we discarded BACs that failed to yield data in <20% of cases. For each hybridization experiment, we established a threshold log2 ratio of 2 SDs from the mean of all autosomal clones, and BACs that exceeded this threshold in both independent dye-swap experiments were classified as variant.
PlatformGPL4010
Comments
ReferenceSharp_et_al_2005
Pubmed ID15918152
Accession Number(s)nsv471651
Frequency
Sample Size48
Observed Gain12
Observed Loss29
Observed Complex0
Frequencyn/a


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