A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161235



Internal ID18956942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42982709..43016548hg38UCSC Ensembl
Outerchr5:42977816..43024687hg38UCSC Ensembl
Innerchr5:42982811..43016650hg19UCSC Ensembl
Outerchr5:42977918..43024789hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3846872
hg1946872
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4033145
Samples
Known GenesFLJ32255, LOC648987
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)nsv1161235
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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