A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9546



Internal ID15847458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:21802085..21811478hg38UCSC Ensembl
Outerchr1:22128578..22137971hg19UCSC Ensembl
Outerchr1:22001165..22010558hg18UCSC Ensembl
Outerchr1:21873884..21883277hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg389394
hg199394
hg189394
hg179394
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17753
SamplesNA18972
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv9546
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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