A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160065



Internal ID18957650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121789785..121852934hg38UCSC Ensembl
Outerchr12:121780583..121859371hg38UCSC Ensembl
Innerchr12:122227691..122290840hg19UCSC Ensembl
Outerchr12:122218489..122297277hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3878789
hg1978789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4031543
Samples
Known GenesHPD, LOC338799, RHOF, SETD1B, TMEM120B
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)nsv1160065
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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