A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4026030



Internal ID19289893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:196787892..196936029hg38UCSC Ensembl
Outerchr1:196780731..196940515hg38UCSC Ensembl
Innerchr1:196757022..196905159hg19UCSC Ensembl
Outerchr1:196749861..196909645hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38159785
hg19159785
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159842
Supporting Variants
Samples
Known GenesCFHR1, CFHR3, CFHR4
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)nssv4026030
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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