A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4033609



Internal ID19297472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112626347..112644009hg38UCSC Ensembl
Outerchr5:112623615..112644409hg38UCSC Ensembl
Innerchr5:111962044..111979706hg19UCSC Ensembl
Outerchr5:111959312..111980106hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3820795
hg1920795
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161276
Supporting Variants
Samples
Known GenesLOC102467214
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)nssv4033609
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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