A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4027135



Internal ID18944312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:47251566..47266392hg38UCSC Ensembl
Outerchr1:47249998..47266706hg38UCSC Ensembl
Innerchr1:47717238..47732064hg19UCSC Ensembl
Outerchr1:47715670..47732378hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3816709
hg1916709
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160846
Supporting Variants
Samples
Known GenesSTIL
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)nssv4027135
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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