A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv452020



Internal ID18275277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161436525..161654635hg38UCSC Ensembl
Innerchr1:161406315..161624425hg19UCSC Ensembl
Innerchr1:159672939..159891049hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38218111
hg19218111
hg18218111
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv428257
Supporting Variants
SamplesNA19257
Known GenesFCGR2A, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)nssv452020
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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