A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv454175



Internal ID18619941
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428408
Supporting Variants
SamplesHGDP00462
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)nssv454175
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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