A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27242



Internal ID15834126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77221106..77236390hg38UCSC Ensembl
Outerchr17:77218856..77237771hg38UCSC Ensembl
Innerchr17:75217188..75232472hg19UCSC Ensembl
Outerchr17:75214938..75233853hg19UCSC Ensembl
Innerchr17:72728783..72744067hg18UCSC Ensembl
Outerchr17:72726533..72745448hg18UCSC Ensembl
Innerchr17:72728783..72744067hg17UCSC Ensembl
Outerchr17:72726533..72745448hg17UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg3818916
hg1918916
hg1818916
hg1718916
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9588
Supporting Variants
SamplesNA18517
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)nssv27242
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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