A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454304



Internal ID18273596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193078588..193249945hg38UCSC Ensembl
Innerchr3:192796377..192967734hg19UCSC Ensembl
Innerchr3:194279071..194450428hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38171358
hg19171358
hg18171358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428429
Supporting Variants
SamplesHGDP00472
Known GenesHRASLS, MGC2889
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)nssv454304
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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