A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161264



Internal ID19304530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86819561..86823329hg38UCSC Ensembl
Outerchr5:86815939..86825812hg38UCSC Ensembl
Innerchr5:86115378..86119146hg19UCSC Ensembl
Outerchr5:86111756..86121629hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg389874
hg199874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033575, nssv4033571, nssv4033546, nssv4033569, nssv4033548, nssv4033551, nssv4033565, nssv4033550, nssv4033544, nssv4033573, nssv4033555, nssv4033541, nssv4033542, nssv4033540, nssv4033582, nssv4033549, nssv4033538, nssv4033560, nssv4033547, nssv4033590, nssv4033564, nssv4033586, nssv4033539, nssv4033567, nssv4033592, nssv4033572, nssv4033545, nssv4033557, nssv4033579, nssv4033577, nssv4033580, nssv4033588, nssv4033587, nssv4033574, nssv4033559, nssv4033553, nssv4033563, nssv4033566, nssv4033554, nssv4033591, nssv4033581, nssv4033558, nssv4033552, nssv4033570, nssv4033556, nssv4033543, nssv4033585, nssv4033562, nssv4033561, nssv4033578, nssv4033576, nssv4033568, nssv4033584, nssv4033589, nssv4033583
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)nsv1161264
Frequency
Sample Size369
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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