A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161086



Internal ID18957617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:56318694..56508162hg38UCSC Ensembl
Outerchr4:56310907..56510457hg38UCSC Ensembl
Innerchr4:57184860..57374328hg19UCSC Ensembl
Outerchr4:57177073..57376623hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38199551
hg19199551
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028897
Samples
Known GenesAASDH, ARL9, KIAA1211, PAICS, PPAT, SRP72
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)nsv1161086
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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