A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428131



Internal ID18624581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176063121..176325899hg38UCSC Ensembl
Innerchr5:175490124..175752902hg19UCSC Ensembl
Innerchr5:175422730..175685508hg18UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38262779
hg19262779
hg18262779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv450540
SamplesNA19113
Known GenesFAM153B, LOC100507387, LOC643201, SIMC1
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)nsv428131
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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