A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027298



Internal ID19291161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130036310..130065662hg38UCSC Ensembl
Outerchr2:130036283..130067885hg38UCSC Ensembl
Innerchr2:130793883..130823235hg19UCSC Ensembl
Outerchr2:130793856..130825458hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3831603
hg1931603
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160865
Supporting Variants
Samples
Known GenesFAR2P1
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)nssv4027298
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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