A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv9565



Internal ID15847477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:47010938..47057893hg38UCSC Ensembl
Outerchr17:45088304..45135259hg19UCSC Ensembl
Outerchr17:42443303..42490258hg18UCSC Ensembl
Outerchr17:42443303..42490258hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3846956
hg1946956
hg1846956
hg1746956
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv27120, nssv23106, nssv24021, nssv24357, nssv24530, nssv23398, nssv24260, nssv24987, nssv28323, nssv21589, nssv26305, nssv24737, nssv23474
SamplesNA18502, NA11830, NA18980, NA07029, NA18563, NA18942, NA10839, NA18975, NA18572, NA19221, NA18537, NA18564, NA19240
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)nsv9565
Frequency
Sample Size31
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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