A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160494



Internal ID18957896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46323701..46674934hg38UCSC Ensembl
Outerchr17:46317054..46687628hg38UCSC Ensembl
Innerchr17:44401067..44752300hg19UCSC Ensembl
Outerchr17:44394420..44764994hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38370575
hg19370575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039385, nssv4039438, nssv4039421, nssv4039404, nssv4039408, nssv4039410, nssv4039431, nssv4039424, nssv4039390, nssv4039400, nssv4039384, nssv4039389, nssv4039394, nssv4039422, nssv4039415, nssv4039418, nssv4039416, nssv4039411, nssv4039391, nssv4039419, nssv4039412, nssv4039407, nssv4039414, nssv4039427, nssv4039406, nssv4039403, nssv4039432, nssv4039420, nssv4039399, nssv4039395, nssv4039396, nssv4039387, nssv4039388, nssv4039437, nssv4039430, nssv4039405, nssv4039426, nssv4039393, nssv4039429, nssv4039402, nssv4039413, nssv4039397, nssv4039423, nssv4039401, nssv4039434, nssv4039392, nssv4039436, nssv4039417, nssv4039398, nssv4039386, nssv4039425, nssv4039435, nssv4039409, nssv4039383, nssv4039433, nssv4039428
Samples
Known GenesARL17A, ARL17B, LRRC37A, LRRC37A2, NSF, NSFP1
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)nsv1160494
Frequency
Sample Size369
Observed Gain0
Observed Loss56
Observed Complex0
Frequencyn/a


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