A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23711



Internal ID15829333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:60003189..60021874hg38UCSC Ensembl
Outerchr17:60002302..60022399hg38UCSC Ensembl
Innerchr17:58080550..58099235hg19UCSC Ensembl
Outerchr17:58079663..58099760hg19UCSC Ensembl
Innerchr17:55435332..55454017hg18UCSC Ensembl
Outerchr17:55434445..55454542hg18UCSC Ensembl
Innerchr17:55435332..55454017hg17UCSC Ensembl
Outerchr17:55434445..55454542hg17UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg3820098
hg1920098
hg1820098
hg1720098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9578
Supporting Variants
SamplesNA10863
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)nssv23711
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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