A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453863



Internal ID18273433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63696404..64274842hg38UCSC Ensembl
Innerchr20:62327757..62906195hg19UCSC Ensembl
Innerchr20:61798201..62376639hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38578439
hg19578439
hg18578439
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428381
Supporting Variants
SamplesHGDP00467
Known GenesABHD16B, ARFRP1, C20orf201, DNAJC5, LIME1, LINC00176, MIR1914, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MYT1, NPBWR2, OPRL1, PCMTD2, PRPF6, RGS19, RTEL1-TNFRSF6B, SAMD10, SLC2A4RG, SOX18, TCEA2, TNFRSF6B, TPD52L2, UCKL1, UCKL1-AS1, ZBTB46, ZGPAT, ZNF512B
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)nssv453863
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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