A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161080



Internal ID18957767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:39584941..39587542hg38UCSC Ensembl
Outerchr4:39576456..39596035hg38UCSC Ensembl
Innerchr4:39586561..39589162hg19UCSC Ensembl
Outerchr4:39578076..39597655hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3819580
hg1919580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4028891
Samples
Known GenesMIR1273H, SMIM14, UGDH-AS1
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)nsv1161080
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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