A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv428383



Internal ID18624833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13262211..13858532hg38UCSC Ensembl
Innerchr21:14634532..15230853hg19UCSC Ensembl
Innerchr21:13556403..14152724hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg38596322
hg19596322
hg18596322
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv453907, nssv453912, nssv453906, nssv453911, nssv453910, nssv453903, nssv453905
SamplesHGDP01088, NA18916, NA18498, HGDP00460, NA19108, HGDP01094, HGDP00478
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)nsv428383
Frequency
Sample Size62
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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