A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160905



Internal ID19303616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:226478072..226481352hg38UCSC Ensembl
Outerchr2:226477322..226483083hg38UCSC Ensembl
Innerchr2:227342788..227346068hg19UCSC Ensembl
Outerchr2:227342038..227347799hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg385762
hg195762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027550, nssv4027549
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)nsv1160905
Frequency
Sample Size369
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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