A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8229



Internal ID15499455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:149852698..150185474hg38UCSC Ensembl
Outerchr7:149549787..149882563hg19UCSC Ensembl
Outerchr7:149180720..149513496hg18UCSC Ensembl
Outerchr7:148987435..149320211hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38332777
hg19332777
hg18332777
hg17332777
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19364, nssv20010, nssv16956, nssv19394, nssv16225, nssv16978, nssv18583, nssv16623, nssv15592, nssv15714
SamplesNA18980, NA18504, NA18942, NA07048, NA18975, NA10863, NA19221, NA18517, NA19144
Known GenesATP6V0E2, ATP6V0E2-AS1, ZNF862
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)nsv8229
Frequency
Sample Size31
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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