A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428323



Internal ID18624773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234737579..234992216hg38UCSC Ensembl
Innerchr1:234873326..235127963hg19UCSC Ensembl
Innerchr1:232939949..233194586hg18UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38254638
hg19254638
hg18254638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453142, nssv453153, nssv453164
SamplesNA18498, HGDP00460, HGDP00450
Known Genes
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)nsv428323
Frequency
Sample Size62
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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