A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28315



Internal ID15496822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45525360..45537053hg38UCSC Ensembl
Outerchr17:45524433..45537765hg38UCSC Ensembl
Innerchr17:43602726..43614419hg19UCSC Ensembl
Outerchr17:43601799..43615131hg19UCSC Ensembl
Innerchr17:40958509..40970202hg18UCSC Ensembl
Outerchr17:40957582..40970914hg18UCSC Ensembl
Innerchr17:40958509..40970202hg17UCSC Ensembl
Outerchr17:40957582..40970914hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813333
hg1913333
hg1813333
hg1713333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
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)nssv28315
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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