A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160876



Internal ID19302866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:157395123..157435791hg38UCSC Ensembl
Outerchr2:157389591..157439287hg38UCSC Ensembl
Innerchr2:158251635..158292303hg19UCSC Ensembl
Outerchr2:158246103..158295799hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3849697
hg1949697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027473
Samples
Known GenesCYTIP
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)nsv1160876
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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