A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160081



Internal ID19302811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:218693025..218792533hg38UCSC Ensembl
Outerchr1:218689443..218796566hg38UCSC Ensembl
Innerchr1:218866367..218965875hg19UCSC Ensembl
Outerchr1:218862785..218969908hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38107124
hg19107124
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4026152
Samples
Known Genes
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)nsv1160081
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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