A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031676



Internal ID19295539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:56249246..56342576hg38UCSC Ensembl
Outerchr13:56233241..56343384hg38UCSC Ensembl
Innerchr13:56823380..56916710hg19UCSC Ensembl
Outerchr13:56807375..56917518hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38110144
hg19110144
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160114
Supporting Variants
Samples
Known Genes
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)nssv4031676
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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