A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160875



Internal ID19302917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:149409700..149480682hg38UCSC Ensembl
Outerchr2:149402530..149485457hg38UCSC Ensembl
Innerchr2:150266214..150337196hg19UCSC Ensembl
Outerchr2:150259044..150341971hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3882928
hg1982928
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027472
Samples
Known GenesLYPD6
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)nsv1160875
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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