A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038080



Internal ID18953533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:1107539..1235146hg38UCSC Ensembl
Outerchr10:1104778..1240765hg38UCSC Ensembl
Innerchr10:1153479..1281082hg19UCSC Ensembl
Outerchr10:1150718..1282828hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38135988
hg19132111
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161922
Supporting Variants
Samples
Known GenesADARB2, LINC00200, WDR37
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)nssv4038080
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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