A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8713



Internal ID15499939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:206683278..206686418hg38UCSC Ensembl
Outerchr1:206856623..206859763hg19UCSC Ensembl
Outerchr1:204923246..204926386hg18UCSC Ensembl
Outerchr1:203245018..203248158hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383141
hg193141
hg183141
hg173141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27015, nssv23063, nssv23679, nssv22091, nssv24284, nssv21756
SamplesNA11830, NA18504, NA12155, NA07048, NA10863, NA12872
Known GenesMAPKAPK2
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)nsv8713
Frequency
Sample Size31
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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