A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428402



Internal ID18278166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:111142206..111905020hg38UCSC Ensembl
Innerchr2:111899783..112662597hg19UCSC Ensembl
Innerchr2:111616254..112379068hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38762815
hg19762815
hg18762815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454074, nssv454075
SamplesHGDP01094, HGDP01088
Known GenesANAPC1, BCL2L11, MERTK, MIR4435-1, MIR4435-1HG, MIR4435-2, MIR4771-1, MIR4771-2
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)nsv428402
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer