A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031664



Internal ID18948841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:41578118..41646880hg38UCSC Ensembl
Outerchr13:41576436..41650277hg38UCSC Ensembl
Innerchr13:42152254..42221016hg19UCSC Ensembl
Outerchr13:42150572..42224413hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3873842
hg1973842
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160106
Supporting Variants
Samples
Known GenesVWA8
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)nssv4031664
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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