A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv249n111



Internal ID20163978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143520153..143728794hg38UCSC Ensembl
chr7:143217246..143425887hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38208642
hg19208642
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1161640, nsv1161637, nsv1161629, nsv1161628, nsv1161639, nsv1161638, nsv1161630, nsv1161635
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)dgv249n111
Frequency
Sample Size369
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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