A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4030234



Internal ID19294097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:125915195..125951732hg38UCSC Ensembl
Outerchr10:125908468..125954971hg38UCSC Ensembl
Innerchr10:127603764..127640301hg19UCSC Ensembl
Outerchr10:127597037..127643540hg19UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3846504
hg1946504
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1159780
Supporting Variants
Samples
Known GenesFANK1
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)nssv4030234
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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