A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428381



Internal ID18278145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:63583375..64334167hg38UCSC Ensembl
Innerchr20:62214728..62965520hg19UCSC Ensembl
Innerchr20:61685172..62435964hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38750793
hg19750793
hg18750793
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453861, nssv453862, nssv453863, nssv453860, nssv453868, nssv453865, nssv453859, nssv453858, nssv453869, nssv453867
SamplesNA19257, NA19147, HGDP00462, HGDP01093, NA19096, NA19181, HGDP01089, HGDP00467, NA19113, HGDP00472
Known GenesABHD16B, ARFRP1, C20orf201, DNAJC5, GMEB2, LIME1, LINC00176, LINC00266-1, MIR1914, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MYT1, NPBWR2, OPRL1, PCMTD2, PRPF6, RGS19, RTEL1, RTEL1-TNFRSF6B, SAMD10, SLC2A4RG, SOX18, STMN3, 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)nsv428381
Frequency
Sample Size62
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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