A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4039938



Internal ID18955391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:45353668..45362432hg38UCSC Ensembl
Outerchr19:45347447..45368176hg38UCSC Ensembl
Innerchr19:45856926..45865690hg19UCSC Ensembl
Outerchr19:45850705..45871434hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3820730
hg1920730
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1160648
Supporting Variants
Samples
Known GenesERCC2, KLC3
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)nssv4039938
Frequency
Sample Size369
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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