A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428126



Internal ID18624576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124021942..124186645hg38UCSC Ensembl
Innerchr5:123357635..123522338hg19UCSC Ensembl
Innerchr5:123385534..123550237hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38164704
hg19164704
hg18164704
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450497, nssv450496
SamplesHGDP01093, HGDP00449
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)nsv428126
Frequency
Sample Size62
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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