A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8497



Internal ID15846409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:63064927..63367053hg38UCSC Ensembl
Outerchr9:66969899..67322025hg19UCSC Ensembl
Outerchr9:66709719..67011845hg18UCSC Ensembl
Outerchr9:65540141..65842267hg17UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg38302127
hg19352127
hg18302127
hg17302127
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18603, nssv18557, nssv18587, nssv18617
SamplesNA18563, NA07048
Known GenesAQP7P1, LOC286297
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)nsv8497
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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