A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv27124



Internal ID15839759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60003189..60014345hg38UCSC Ensembl
Outerchr17:60002302..60014876hg38UCSC Ensembl
Innerchr17:58080550..58091706hg19UCSC Ensembl
Outerchr17:58079663..58092237hg19UCSC Ensembl
Innerchr17:55435332..55446488hg18UCSC Ensembl
Outerchr17:55434445..55447019hg18UCSC Ensembl
Innerchr17:55435332..55446488hg17UCSC Ensembl
Outerchr17:55434445..55447019hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3812575
hg1912575
hg1812575
hg1712575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9578
Supporting Variants
SamplesNA18972
Known GenesTBC1D3P1-DHX40P1
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)nssv27124
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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