A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23495



Internal ID15835848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13718860..13719345hg38UCSC Ensembl
Outerchr17:13716441..13720306hg38UCSC Ensembl
Innerchr17:13622177..13622662hg19UCSC Ensembl
Outerchr17:13619758..13623623hg19UCSC Ensembl
Innerchr17:13562902..13563387hg18UCSC Ensembl
Outerchr17:13560483..13564348hg18UCSC Ensembl
Innerchr17:13562902..13563387hg17UCSC Ensembl
Outerchr17:13560483..13564348hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383866
hg193866
hg183866
hg173866
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9494
Supporting Variants
SamplesNA18563
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)nssv23495
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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