A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8524



Internal ID15846436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:165452040..165455737hg38UCSC Ensembl
Outerchr1:165421277..165424974hg19UCSC Ensembl
Outerchr1:163687901..163691598hg18UCSC Ensembl
Outerchr1:162152935..162156632hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg383698
hg193698
hg183698
hg173698
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27037
SamplesNA19221
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)nsv8524
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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