A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160802



Internal ID19302935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56069050..56098310hg38UCSC Ensembl
Outerchr2:56060013..56099161hg38UCSC Ensembl
Innerchr2:56296185..56325445hg19UCSC Ensembl
Outerchr2:56287148..56326296hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3839149
hg1939149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026832, nssv4026835, nssv4026833
Samples
Known Genes
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)nsv1160802
Frequency
Sample Size369
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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