A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159779



Internal ID18956782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:122825415..122833768hg38UCSC Ensembl
Outerchr10:122823567..122836418hg38UCSC Ensembl
Innerchr10:124584931..124593284hg19UCSC Ensembl
Outerchr10:124583083..124595934hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg3812852
hg1912852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030233
Samples
Known GenesCUZD1, FAM24B-CUZD1
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)nsv1159779
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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