A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8064



Internal ID15499290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:17073321..17404419hg38UCSC Ensembl
Outerchr7:17112945..17444043hg19UCSC Ensembl
Outerchr7:17079470..17410568hg18UCSC Ensembl
Outerchr7:16886185..17217283hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38331099
hg19331099
hg18331099
hg17331099
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15086
SamplesNA19007
Known GenesAHR
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)nsv8064
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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