A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026379



Internal ID19290242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25973829..25989559hg38UCSC Ensembl
Outerchr1:25970542..25992341hg38UCSC Ensembl
Innerchr1:26300320..26316050hg19UCSC Ensembl
Outerchr1:26297033..26318832hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3821800
hg1921800
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160537
Supporting Variants
Samples
Known GenesPAFAH2
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)nssv4026379
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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