A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8780



Internal ID15846692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212482293..212485416hg38UCSC Ensembl
Outerchr1:212655635..212658758hg19UCSC Ensembl
Outerchr1:210722258..210725381hg18UCSC Ensembl
Outerchr1:209044030..209047153hg17UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg383124
hg193124
hg183124
hg173124
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv21085
SamplesNA18980
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)nsv8780
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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