A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031471



Internal ID19295334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:60349040..60388062hg38UCSC Ensembl
Outerchr12:60341694..60390175hg38UCSC Ensembl
Innerchr12:60742821..60781843hg19UCSC Ensembl
Outerchr12:60735475..60783956hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3848482
hg1948482
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160037
Supporting Variants
Samples
Known Genes
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)nssv4031471
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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