A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4040366



Internal ID19299188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13080541..13169048hg38UCSC Ensembl
Outerchr21:13074391..13177644hg38UCSC Ensembl
Innerchr21:14452862..14541369hg19UCSC Ensembl
Outerchr21:14446712..14549965hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38103254
hg19103254
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160697
Supporting Variants
Samples
Known GenesANKRD30BP2
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)nssv4040366
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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