A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453831



Internal ID18273369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87216679hg38UCSC Ensembl
Innerchr2:87245762..87443802hg19UCSC Ensembl
Innerchr2:87099273..87297313hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38198041
hg19198041
hg18198041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428398
Supporting Variants
SamplesHGDP00463
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)nssv453831
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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