A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160831



Internal ID19303483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:102495962..102522302hg38UCSC Ensembl
Outerchr2:102492393..102524264hg38UCSC Ensembl
Innerchr2:103112421..103138761hg19UCSC Ensembl
Outerchr2:103108852..103140723hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3831872
hg1931872
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027040
Samples
Known GenesSLC9A4
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)nsv1160831
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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