A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039455



Internal ID19301594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14183415..14398615hg38UCSC Ensembl
Outerchr18:14181799..14406970hg38UCSC Ensembl
Innerchr18:14183414..14398614hg19UCSC Ensembl
Outerchr18:14181798..14406969hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38225172
hg19225172
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160510
Supporting Variants
Samples
Known GenesANKRD20A5P, CYP4F35P
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)nssv4039455
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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