A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1161928



Internal ID19304338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:10420869..10432845hg38UCSC Ensembl
Outerchr10:10418894..10436908hg38UCSC Ensembl
Innerchr10:10462832..10474808hg19UCSC Ensembl
Outerchr10:10460857..10478871hg19UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3818015
hg1918015
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4038086
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)nsv1161928
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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