A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428398



Internal ID18624848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:87018639..87742561hg38UCSC Ensembl
Innerchr2:87245762..88042080hg19UCSC Ensembl
Innerchr2:87099273..87823195hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38723923
hg19796319
hg18723923
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453831, nssv453842, nssv453853, nssv453864
SamplesHGDP01093, HGDP00463, HGDP01088, HGDP01094
Known GenesLINC00152, LOC285074, MIR4435-1, MIR4435-2, 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)nsv428398
Frequency
Sample Size62
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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