A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26305



Internal ID15844429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47042403..47055077hg38UCSC Ensembl
Outerchr17:47036367..47057893hg38UCSC Ensembl
Innerchr17:45119769..45132443hg19UCSC Ensembl
Outerchr17:45113733..45135259hg19UCSC Ensembl
Innerchr17:42474768..42487442hg18UCSC Ensembl
Outerchr17:42468732..42490258hg18UCSC Ensembl
Innerchr17:42474768..42487442hg17UCSC Ensembl
Outerchr17:42468732..42490258hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3821527
hg1921527
hg1821527
hg1721527
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9565
Supporting Variants
SamplesNA19240
Known Genes
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)nssv26305
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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