A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428122



Internal ID18624572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104845168..105214720hg38UCSC Ensembl
Innerchr5:104180869..104550421hg19UCSC Ensembl
Innerchr5:104208768..104578320hg18UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38369553
hg19369553
hg18369553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450490
SamplesHGDP00449
Known GenesRAB9BP1
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)nsv428122
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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