A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4037983



Internal ID18953436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:133061625..133081235hg38UCSC Ensembl
Outerchr9:133059798..133090275hg38UCSC Ensembl
Innerchr9:135937012..135956622hg19UCSC Ensembl
Outerchr9:135935185..135965662hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3830478
hg1930478
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161913
Supporting Variants
Samples
Known GenesCEL, CELP
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)nssv4037983
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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