A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv450243



Internal ID18273738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53452879..53563563hg38UCSC Ensembl
Innerchr1:53918552..54029236hg19UCSC Ensembl
Innerchr1:53691140..53801824hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38110685
hg19110685
hg18110685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428443
Supporting Variants
SamplesHGDP00476
Known GenesDMRTB1, GLIS1
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)nssv450243
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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