A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454174



Internal ID18274731
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 StatusS
Merged Variantsnsv428407
Supporting Variants
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)nssv454174
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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