A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032375



Internal ID19296238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:76598900..76610855hg38UCSC Ensembl
Outerchr15:76586021..76614006hg38UCSC Ensembl
Innerchr15:76891241..76903196hg19UCSC Ensembl
Outerchr15:76878362..76906347hg19UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg3827986
hg1927986
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160308
Supporting Variants
Samples
Known GenesSCAPER
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)nssv4032375
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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