A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160614



Internal ID18957091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35358591..35370946hg38UCSC Ensembl
Outerchr19:35358420..35375842hg38UCSC Ensembl
Innerchr19:35849493..35861848hg19UCSC Ensembl
Outerchr19:35849322..35866744hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3817423
hg1917423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv141n111
Supporting Variantsnssv4039786, nssv4039800, nssv4039790, nssv4039772, nssv4039788, nssv4039815, nssv4039816, nssv4039773, nssv4039771, nssv4039803, nssv4039778, nssv4039820, nssv4039817, nssv4039782, nssv4039789, nssv4039812, nssv4039791, nssv4039813, nssv4039775, nssv4039808, nssv4039807, nssv4039801, nssv4039783, nssv4039798, nssv4039776, nssv4039799, nssv4039806, nssv4039777, nssv4039814, nssv4039794, nssv4039774, nssv4039795, nssv4039779, nssv4039810, nssv4039792, nssv4039784, nssv4039805, nssv4039818, nssv4039802, nssv4039809, nssv4039785, nssv4039804, nssv4039797, nssv4039796, nssv4039780, nssv4039781, nssv4039787, nssv4039793, nssv4039819, nssv4039811
Samples
Known GenesFFAR3
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)nsv1160614
Frequency
Sample Size369
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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