A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161422



Internal ID19303281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78811345..78818857hg38UCSC Ensembl
Outerchr6:78810972..78821538hg38UCSC Ensembl
Innerchr6:79521062..79528574hg19UCSC Ensembl
Outerchr6:79520689..79531255hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3810567
hg1910567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4034924, nssv4034923, nssv4034922, nssv4034920, nssv4034921
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)nsv1161422
Frequency
Sample Size369
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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