A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450504



Internal ID18275230
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 StatusS
Merged Variantsnsv428127
Supporting Variants
SamplesNA19225
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)nssv450504
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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