A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161035



Internal ID18956572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:86399183..86427136hg38UCSC Ensembl
Outerchr1:86393286..86430858hg38UCSC Ensembl
Innerchr1:86864866..86892819hg19UCSC Ensembl
Outerchr1:86858969..86896541hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3837573
hg1937573
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028546
Samples
Known GenesCLCA2, ODF2L
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)nsv1161035
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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