A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28369



Internal ID15843634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:79665070..79679963hg38UCSC Ensembl
Outerchr17:79663879..79681890hg38UCSC Ensembl
Innerchr17:77638931..77653826hg19UCSC Ensembl
Outerchr17:77637741..77655753hg19UCSC Ensembl
Innerchr17:75253526..75268421hg18UCSC Ensembl
Outerchr17:75252336..75270348hg18UCSC Ensembl
Innerchr17:75253526..75268421hg17UCSC Ensembl
Outerchr17:75252336..75270348hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3818012
hg1918013
hg1818013
hg1718013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9593
Supporting Variants
SamplesNA19221
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)nssv28369
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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