A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030237



Internal ID18947414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133143045..133255220hg38UCSC Ensembl
Outerchr10:133132423..133263092hg38UCSC Ensembl
Innerchr10:134956549..135068724hg19UCSC Ensembl
Outerchr10:134945927..135076596hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38130670
hg19130670
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159784
Supporting Variants
Samples
Known GenesADAM8, KNDC1, MIR202, MIR202HG, 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)nssv4030237
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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