A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454403



Internal ID18273899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:9322918..9712714hg38UCSC Ensembl
Innerchr4:9324644..9714338hg19UCSC Ensembl
Innerchr4:8933742..9323436hg18UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38389797
hg19389695
hg18389695
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428437
Supporting Variants
SamplesHGDP00984
Known GenesDEFB131, LOC650293, MIR548I2, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, USP17L6P, USP17L9P
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)nssv454403
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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