A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4035863



Internal ID18941276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143218968..143398219hg19UCSC Ensembl
Outerchr7:143218858..143408430hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg19189573
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161630
Supporting Variants
Samples
Known GenesCTAGE15, EPHA1-AS1, FAM115C
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)nssv4035863
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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