A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428408



Internal ID18278172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231672114..231968956hg38UCSC Ensembl
Innerchr2:232536825..232833666hg19UCSC Ensembl
Innerchr2:232245069..232541910hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38296843
hg19296842
hg18296842
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv454178, nssv454175, nssv454179, nssv454177
SamplesHGDP00462, NA19189, NA19225, HGDP00478
Known GenesCOPS7B, DIS3L2, MIR1244-1, MIR1244-2, MIR1244-3, MIR1471, NPPC, PDE6D, PTMA
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)nsv428408
Frequency
Sample Size62
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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