A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453860



Internal ID18274848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63583375..63745014hg38UCSC Ensembl
Innerchr20:62214728..62376367hg19UCSC Ensembl
Innerchr20:61685172..61846811hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38161640
hg19161640
hg18161640
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428381
Supporting Variants
SamplesNA19113
Known GenesARFRP1, GMEB2, LIME1, RTEL1, RTEL1-TNFRSF6B, SLC2A4RG, STMN3, TNFRSF6B, ZBTB46, ZGPAT
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv453860
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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