A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9594



Internal ID15500820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:79706133..79718128hg38UCSC Ensembl
Outerchr17:77679942..77691895hg19UCSC Ensembl
Outerchr17:75294537..75306490hg18UCSC Ensembl
Outerchr17:75294537..75306490hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3811996
hg1911954
hg1811954
hg1711954
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv23302, nssv26531
SamplesNA18942, NA19240
Known GenesMIR4739
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)nsv9594
Frequency
Sample Size31
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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