A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453842



Internal ID18274294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87307732hg38UCSC Ensembl
Innerchr2:87245762..87534855hg19UCSC Ensembl
Innerchr2:87099273..87388366hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38289094
hg19289094
hg18289094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428398
Supporting Variants
SamplesHGDP01093
Known GenesLOC285074, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2
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)nssv453842
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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