A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4031590



Internal ID18948767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18522796..19051012hg38UCSC Ensembl
Outerchr13:18511174..19051129hg38UCSC Ensembl
Innerchr13:19096936..19625152hg19UCSC Ensembl
Outerchr13:19085314..19625269hg19UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38539956
hg19539956
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160085
Supporting Variants
Samples
Known GenesANKRD20A9P, LINC00408, LINC00417, LINC00442
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)nssv4031590
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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