A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1160711



Internal ID19304089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36925350..36926716hg38UCSC Ensembl
Outerchr21:36924603..36933525hg38UCSC Ensembl
Innerchr21:38297650..38299016hg19UCSC Ensembl
Outerchr21:38296903..38305825hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg388923
hg198923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4040463
Samples
Known GenesHLCS
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)nsv1160711
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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