A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428301



Internal ID18278065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201059216..201191346hg38UCSC Ensembl
Innerchr1:201028344..201160474hg19UCSC Ensembl
Innerchr1:199294967..199427097hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38132131
hg19132131
hg18132131
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv452864
SamplesNA18916
Known GenesASCL5, CACNA1S, IGFN1, TMEM9
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)nsv428301
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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