A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4025996



Internal ID18943173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:175355826..175374672hg38UCSC Ensembl
Outerchr1:175353706..175383567hg38UCSC Ensembl
Innerchr1:175324962..175343808hg19UCSC Ensembl
Outerchr1:175322842..175352703hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3829862
hg1929862
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159767
Supporting Variants
Samples
Known GenesTNR
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)nssv4025996
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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