A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031591



Internal ID19295454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18794514..18852422hg38UCSC Ensembl
Outerchr13:18745495..18862160hg38UCSC Ensembl
Innerchr13:19368654..19426562hg19UCSC Ensembl
Outerchr13:19319635..19436300hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38116666
hg19116666
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160086
Supporting Variants
Samples
Known GenesANKRD20A9P
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)nssv4031591
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer