A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160696



Internal ID19303297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13074391..13177644hg38UCSC Ensembl
Outerchr21:13064470..13188389hg38UCSC Ensembl
Innerchr21:14446712..14549965hg19UCSC Ensembl
Outerchr21:14436791..14560710hg19UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38123920
hg19123920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv165n111
Supporting Variantsnssv4040356
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)nsv1160696
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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