A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026213



Internal ID19290076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21994022..22004046hg38UCSC Ensembl
Outerchr1:21992508..22010750hg38UCSC Ensembl
Innerchr1:22320515..22330539hg19UCSC Ensembl
Outerchr1:22319001..22337243hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3818243
hg1918243
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160263
Supporting Variants
Samples
Known GenesCELA3A
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)nssv4026213
Frequency
Sample Size369
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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