A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4032265



Internal ID18949442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43592920..43646608hg38UCSC Ensembl
Outerchr15:43553305..43684220hg38UCSC Ensembl
Innerchr15:43885118..43938806hg19UCSC Ensembl
Outerchr15:43845503..43976418hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg38130916
hg19130916
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160289
Supporting Variants
Samples
Known GenesCATSPER2, CKMT1B, PPIP5K1, RNU6-28P, STRC
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)nssv4032265
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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