A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28225



Internal ID15497475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:27750777..27777338hg38UCSC Ensembl
Outerchr17:27750070..27778680hg38UCSC Ensembl
Innerchr17:26077803..26104364hg19UCSC Ensembl
Outerchr17:26077096..26105706hg19UCSC Ensembl
Innerchr17:23101930..23128491hg18UCSC Ensembl
Outerchr17:23101223..23129833hg18UCSC Ensembl
Innerchr17:23101930..23128491hg17UCSC Ensembl
Outerchr17:23101223..23129833hg17UCSC Ensembl
Cytoband17q11.1
Allele length
AssemblyAllele length
hg3828611
hg1928611
hg1828611
hg1728611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9533
Supporting Variants
SamplesNA19221
Known GenesNOS2
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)nssv28225
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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