A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8582



Internal ID15499808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:136845406..136862518hg38UCSC Ensembl
Outerchr9:139739858..139756970hg19UCSC Ensembl
Outerchr9:138859679..138876791hg18UCSC Ensembl
Outerchr9:137015695..137032807hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3817113
hg1917113
hg1817113
hg1717113
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23198
SamplesNA19221
Known GenesC9orf172, EDF1, MAMDC4, PHPT1
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)nsv8582
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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