A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160586



Internal ID18957536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12605693..12815096hg38UCSC Ensembl
Outerchr19:12597480..12823909hg38UCSC Ensembl
Innerchr19:12716507..12925910hg19UCSC Ensembl
Outerchr19:12708294..12934723hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38226430
hg19226430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4039718
Samples
Known GenesASNA1, BEST2, C19orf43, DHPS, FBXW9, HOOK2, JUNB, MAN2B1, PRDX2, RNASEH2A, SNORD41, TNPO2, WDR83, WDR83OS, ZNF490, ZNF791
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)nsv1160586
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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