A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161426



Internal ID19304125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:80574472..80579817hg38UCSC Ensembl
Outerchr6:80568270..80584624hg38UCSC Ensembl
Innerchr6:81284189..81289534hg19UCSC Ensembl
Outerchr6:81277987..81294341hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3816355
hg1916355
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv227n111
Supporting Variantsnssv4034933, nssv4034941, nssv4034928, nssv4034939, nssv4034929, nssv4034936, nssv4034931, nssv4034940, nssv4034937, nssv4034932, nssv4034935, nssv4034930, nssv4034934, nssv4034938, nssv4034942
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)nsv1161426
Frequency
Sample Size369
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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