A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029161



Internal ID19293024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:70362548..70383331hg38UCSC Ensembl
Outerchr4:70362085..70385052hg38UCSC Ensembl
Innerchr4:71228265..71249048hg19UCSC Ensembl
Outerchr4:71227802..71250769hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg3822968
hg1922968
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161114
Supporting Variants
Samples
Known GenesSMR3A, SMR3B
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)nssv4029161
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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