A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8231



Internal ID15499457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:150974279..150983926hg38UCSC Ensembl
Outerchr7:150671367..150681014hg19UCSC Ensembl
Outerchr7:150302300..150311947hg18UCSC Ensembl
Outerchr7:150109015..150118662hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg389648
hg199648
hg189648
hg179648
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18613
SamplesNA18504
Known GenesKCNH2
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)nsv8231
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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