A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160454



Internal ID19303901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15639847..15643476hg38UCSC Ensembl
Outerchr17:15623842..15650964hg38UCSC Ensembl
Innerchr17:15543161..15546790hg19UCSC Ensembl
Outerchr17:15527156..15554278hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3827123
hg1927123
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039068, nssv4039078, nssv4039077, nssv4039066, nssv4039073, nssv4039076, nssv4039069, nssv4039074, nssv4039067, nssv4039072, nssv4039071, nssv4039070, nssv4039079, nssv4039075
Samples
Known GenesTRIM16
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)nsv1160454
Frequency
Sample Size369
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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