A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8546



Internal ID15499772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:10692870..10696710hg38UCSC Ensembl
Outerchr1:10752927..10756767hg19UCSC Ensembl
Outerchr1:10675514..10679354hg18UCSC Ensembl
Outerchr1:10687193..10691033hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg383841
hg193841
hg183841
hg173841
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv28926, nssv28027
SamplesNA07029, NA12740
Known GenesCASZ1
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)nsv8546
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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