A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428404



Internal ID18278168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131023910..131858730hg38UCSC Ensembl
Innerchr2:131781483..132616303hg19UCSC Ensembl
Innerchr2:131497953..132332773hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38834821
hg19834821
hg18834821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454107, nssv454104, nssv454106, nssv454105, nssv454116, nssv454103, nssv454108, nssv454102, nssv454101, nssv454109, nssv454114, nssv454113, nssv454115
SamplesHGDP00462, HGDP01087, HGDP01094, NA19096, NA18916, NA19181, HGDP01089, NA19189, HGDP00467, HGDP00986, HGDP01088, NA19225, HGDP00460
Known GenesARHGEF4, C2orf27A, C2orf27B, CCDC74A, FAM168B, LINC01087, LINC01120, LOC150776, LOC401010, LOC440910, MIR4784, MZT2A, PLEKHB2, POTEE, POTEKP, RNU6-81P, TUBA3D, WTH3DI
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)nsv428404
Frequency
Sample Size62
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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