A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428127



Internal ID18277891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141016768..141319173hg38UCSC Ensembl
Innerchr5:140396353..140698740hg19UCSC Ensembl
Innerchr5:140376537..140678924hg18UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38302406
hg19302388
hg18302388
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450503, nssv450504
SamplesNA19225, NA19147
Known GenesLOC101926905, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB17, PCDHB18, PCDHB19P, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, SLC25A2, TAF7
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)nsv428127
Frequency
Sample Size62
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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