A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160312



Internal ID19302959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:80230629..80234268hg38UCSC Ensembl
Outerchr15:80227841..80238172hg38UCSC Ensembl
Innerchr15:80522971..80526610hg19UCSC Ensembl
Outerchr15:80520183..80530514hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg3810332
hg1910332
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4032392, nssv4032389, nssv4032382, nssv4032381, nssv4032386, nssv4032383, nssv4032380, nssv4032391, nssv4032379, nssv4032388, nssv4032384, nssv4032390, nssv4032387, nssv4032385
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)nsv1160312
Frequency
Sample Size369
Observed Gain1
Observed Loss13
Observed Complex0
Frequencyn/a


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