A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24720



Internal ID15840711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60003189..60004069hg38UCSC Ensembl
Outerchr17:60002302..60005190hg38UCSC Ensembl
Innerchr17:58080550..58081430hg19UCSC Ensembl
Outerchr17:58079663..58082551hg19UCSC Ensembl
Innerchr17:55435332..55436212hg18UCSC Ensembl
Outerchr17:55434445..55437333hg18UCSC Ensembl
Innerchr17:55435332..55436212hg17UCSC Ensembl
Outerchr17:55434445..55437333hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg382889
hg192889
hg182889
hg172889
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9578
Supporting Variants
SamplesNA18980
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)nssv24720
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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