A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161947



Internal ID19303969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46170858..46324325hg38UCSC Ensembl
Outerchr10:46169953..46328716hg38UCSC Ensembl
Innerchr10:47542094..47695561hg19UCSC Ensembl
Outerchr10:47541189..47699952hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38158764
hg19158764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv32n111
Supporting Variantsnssv4038149, nssv4038152, nssv4038155, nssv4038151, nssv4038153, nssv4038154, nssv4038150, nssv4038148, nssv4038147
Samples
Known GenesANTXRL, ANTXRLP1
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)nsv1161947
Frequency
Sample Size369
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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