A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4038158



Internal ID18953611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46324326..46372256hg38UCSC Ensembl
Outerchr10:46324033..46399292hg38UCSC Ensembl
Innerchr10:47695562..47743516hg19UCSC Ensembl
Outerchr10:47695269..47771030hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3875260
hg1975762
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161950
Supporting Variants
Samples
Known GenesANTXRL, ANXA8L1, ANXA8L2, FAM25B
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)nssv4038158
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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