A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4029916



Internal ID18947093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154579119..154583969hg38UCSC Ensembl
Outerchr1:154575785..154587122hg38UCSC Ensembl
Innerchr1:154551595..154556445hg19UCSC Ensembl
Outerchr1:154548261..154559598hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3811338
hg1911338
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1161683
Supporting Variants
Samples
Known GenesADAR, CHRNB2
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)nssv4029916
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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