A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030239



Internal ID18947416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133249523..133312629hg38UCSC Ensembl
Outerchr10:133242961..133339792hg38UCSC Ensembl
Innerchr10:135063027..135126133hg19UCSC Ensembl
Outerchr10:135056465..135153296hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg3896832
hg1996832
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159786
Supporting Variants
Samples
Known GenesADAM8, CALY, MIR202, MIR202HG, TUBGCP2, ZNF511
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)nssv4030239
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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