A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160422



Internal ID19304220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55762477..55788532hg38UCSC Ensembl
Outerchr16:55761302..55795645hg38UCSC Ensembl
Innerchr16:55796389..55822444hg19UCSC Ensembl
Outerchr16:55795214..55829557hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3834344
hg1934344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv122n111
Supporting Variantsnssv4032452, nssv4038930, nssv4038946, nssv4032471, nssv4032470, nssv4032496, nssv4038947, nssv4038934, nssv4032492, nssv4038940, nssv4032467, nssv4032489, nssv4032494, nssv4032486, nssv4032468, nssv4032458, nssv4038936, nssv4032462, nssv4032477, nssv4038943, nssv4032460, nssv4032490, nssv4032483, nssv4032478, nssv4038944, nssv4032459, nssv4032465, nssv4038931, nssv4038945, nssv4032484, nssv4032479, nssv4032463, nssv4032491, nssv4032473, nssv4038942, nssv4038935, nssv4032453, nssv4032474, nssv4032472, nssv4032481, nssv4032495, nssv4032454, nssv4032476, nssv4032457, nssv4032456, nssv4032455, nssv4032493, nssv4032475, nssv4038933, nssv4032497, nssv4038941, nssv4032482, nssv4038932, nssv4032461, nssv4032466, nssv4038938, nssv4032469, nssv4032485, nssv4038939, nssv4032480, nssv4032487, nssv4038937, nssv4032464, nssv4032488
Samples
Known GenesCES1P1
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)nsv1160422
Frequency
Sample Size369
Observed Gain0
Observed Loss64
Observed Complex0
Frequencyn/a


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