A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1159785



Internal ID18957048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133242961..133300092hg38UCSC Ensembl
Outerchr10:133203815..133305981hg38UCSC Ensembl
Innerchr10:135056465..135113596hg19UCSC Ensembl
Outerchr10:135017319..135119485hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38102167
hg19102167
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030238
Samples
Known GenesADAM8, KNDC1, MIR202, MIR202HG, TUBGCP2, UTF1, VENTX
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)nsv1159785
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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