A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038119



Internal ID19300258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:37654305..37657506hg38UCSC Ensembl
Outerchr10:37654286..37665425hg38UCSC Ensembl
Innerchr10:37943233..37946434hg19UCSC Ensembl
Outerchr10:37943214..37954353hg19UCSC Ensembl
Cytoband10p11.21
Allele length
AssemblyAllele length
hg3811140
hg1911140
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161939
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)nssv4038119
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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