A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160821



Internal ID18956362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:34637053..34638890hg38UCSC Ensembl
Outerchr1:34626073..34648667hg38UCSC Ensembl
Innerchr1:35102654..35104491hg19UCSC Ensembl
Outerchr1:35091674..35114268hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3822595
hg1922595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9n111
Supporting Variantsnssv4026601, nssv4026867, nssv4026934, nssv4026812, nssv4026912, nssv4026412, nssv4026623, nssv4026612, nssv4026590, nssv4026723, nssv4026712, nssv4026745, nssv4026890, nssv4026546, nssv4026501, nssv4026568, nssv4026557, nssv4026523, nssv4026923, nssv4026879, nssv4026779, nssv4026446, nssv4026734, nssv4026801, nssv4026668, nssv4026401, nssv4026512, nssv4026768, nssv4026901, nssv4026945, nssv4026834, nssv4026435, nssv4026657, nssv4026790, nssv4026390, nssv4026534, nssv4026490, nssv4026679, nssv4026645, nssv4026701, nssv4026690, nssv4026479, nssv4026823, nssv4026634, nssv4026856, nssv4026845, nssv4026579, nssv4026756, nssv4026457, nssv4026468, nssv4026423
Samples
Known Genes
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)nsv1160821
Frequency
Sample Size369
Observed Gain0
Observed Loss51
Observed Complex0
Frequencyn/a


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