A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038185



Internal ID19300324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:57130750..57180217hg38UCSC Ensembl
Outerchr10:57123494..57181801hg38UCSC Ensembl
Innerchr10:58890510..58939977hg19UCSC Ensembl
Outerchr10:58883254..58941561hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3858308
hg1958308
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161962
Supporting Variants
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)nssv4038185
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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