A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161314



Internal ID19304202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:177730398..177771448hg38UCSC Ensembl
Outerchr5:177724103..177800550hg38UCSC Ensembl
Innerchr5:177157399..177198449hg19UCSC Ensembl
Outerchr5:177151104..177227551hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3876448
hg1976448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033879, nssv4033863, nssv4033893, nssv4033852, nssv4033918, nssv4033850, nssv4033870, nssv4033929, nssv4033871, nssv4033867, nssv4033936, nssv4033846, nssv4033925, nssv4033903, nssv4033931, nssv4033861, nssv4033940, nssv4033928, nssv4033911, nssv4033881, nssv4033910, nssv4033857, nssv4033874, nssv4033894, nssv4033923, nssv4033896, nssv4033926, nssv4033934, nssv4033906, nssv4033885, nssv4033904, nssv4033902, nssv4033848, nssv4033892, nssv4033917, nssv4033883, nssv4033886, nssv4033921, nssv4033890, nssv4033919, nssv4033915, nssv4033933, nssv4033901, nssv4033875, nssv4033872, nssv4033877, nssv4033888, nssv4033891, nssv4033844, nssv4033916, nssv4033909, nssv4033851, nssv4033880, nssv4033913, nssv4033930, nssv4033868, nssv4033864, nssv4033869, nssv4033856, nssv4033897, nssv4033922, nssv4033873, nssv4033935, nssv4033899, nssv4033889, nssv4033908, nssv4033859, nssv4033939, nssv4033937, nssv4033845, nssv4033855, nssv4033900, nssv4033914, nssv4033884, nssv4033878, nssv4033858, nssv4033920, nssv4033860, nssv4033882, nssv4033912, nssv4033895, nssv4033849, nssv4033907, nssv4033854, nssv4033905, nssv4033924, nssv4033866, nssv4033927, nssv4033865, nssv4033887, nssv4033876, nssv4033853, nssv4033847, nssv4033938, nssv4033862, nssv4033898, nssv4033932
Samples
Known GenesFAM153A
MethodSNP array
Analysis1) We applied common software Birdsuite to detect genome-wide CNVs; 2) we used our algorithm WinXPCNVer which is based on probe intensity to identify Tibetan specific CNV; 3) we further genotyped the discovered Tibetan specific CNV by K-means and manual observation.
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceLou_et_al_2015
Pubmed ID26073780
Accession Number(s)nsv1161314
Frequency
Sample Size369
Observed Gain0
Observed Loss97
Observed Complex0
Frequencyn/a


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