A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159922



Internal ID19303764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:96047287..96053965hg38UCSC Ensembl
Outerchr11:96040271..96056639hg38UCSC Ensembl
Innerchr11:95780451..95787129hg19UCSC Ensembl
Outerchr11:95773435..95789803hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3816369
hg1916369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030830
Samples
Known GenesMAML2
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)nsv1159922
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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