A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453452



Internal ID18274004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248494060..248714122hg38UCSC Ensembl
Innerchr1:248657361..248877423hg19UCSC Ensembl
Innerchr1:246723984..246944046hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38220063
hg19220063
hg18220063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428357
Supporting Variants
SamplesHGDP01086
Known GenesOR14I1, OR2G6, OR2T10, OR2T11, OR2T27, OR2T29, OR2T34, OR2T35
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)nssv453452
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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