A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428444



Internal ID18624894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:51793952..51971936hg38UCSC Ensembl
Innerchr4:52660118..52838102hg19UCSC Ensembl
Innerchr4:52354875..52532859hg18UCSC Ensembl
Cytoband4q11
Allele length
AssemblyAllele length
hg38177985
hg19177985
hg18177985
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454483, nssv454481, nssv454484, nssv454490, nssv454489, nssv454492, nssv454482, nssv454485, nssv454486, nssv454491, nssv454488, nssv454480
SamplesHGDP01088, NA18498, NA19189, HGDP00460, NA19113, NA19225, HGDP00984, HGDP00471, NA19096, HGDP00478, HGDP01086, HGDP00449
Known GenesDCUN1D4
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)nsv428444
Frequency
Sample Size62
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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