A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428407



Internal ID18278171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:221497435..221633464hg38UCSC Ensembl
Innerchr2:222362155..222498184hg19UCSC Ensembl
Innerchr2:222070399..222206428hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38136030
hg19136030
hg18136030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454174
SamplesNA19096
Known GenesEPHA4
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)nsv428407
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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