A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv453905



Internal ID18621285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13394953..13858532hg38UCSC Ensembl
Innerchr21:14767274..15230853hg19UCSC Ensembl
Innerchr21:13689145..14152724hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38463580
hg19463580
hg18463580
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428383
Supporting Variants
SamplesNA18916
Known GenesC21orf15, LOC100288966, MIR3156-3, MIR8069, POTED
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)nssv453905
Frequency
Sample Size62
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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