A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4034687



Internal ID19298550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54834954..54866492hg38UCSC Ensembl
Outerchr6:54830076..54868713hg38UCSC Ensembl
Innerchr6:54699752..54731290hg19UCSC Ensembl
Outerchr6:54694874..54733511hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3838638
hg1938638
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161381
Supporting Variants
Samples
Known GenesFAM83B
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)nssv4034687
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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