A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428432



Internal ID18278196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21409691..21615921hg38UCSC Ensembl
Innerchr1:21736184..21942414hg19UCSC Ensembl
Innerchr1:21608771..21815001hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38206231
hg19206231
hg18206231
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454598, nssv454565, nssv454576, nssv454587, nssv454609, nssv454554, nssv454620
SamplesHGDP00463, HGDP01093, HGDP01094, NA19096, NA18916, HGDP00460, HGDP00472
Known GenesALPL, NBPF3, RAP1GAP
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)nsv428432
Frequency
Sample Size62
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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