A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161162



Internal ID19304288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:152069134..152071589hg38UCSC Ensembl
Outerchr4:152068448..152072978hg38UCSC Ensembl
Innerchr4:152990286..152992741hg19UCSC Ensembl
Outerchr4:152989600..152994130hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg384531
hg194531
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029411, nssv4029423, nssv4029419, nssv4029396, nssv4029412, nssv4029414, nssv4029397, nssv4029409, nssv4029404, nssv4029403, nssv4029408, nssv4029401, nssv4029400, nssv4029418, nssv4029422, nssv4029402, nssv4029405, nssv4029416, nssv4029417, nssv4029406, nssv4029413, nssv4029407, nssv4029415, nssv4029420
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)nsv1161162
Frequency
Sample Size369
Observed Gain1
Observed Loss23
Observed Complex0
Frequencyn/a


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