A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24929



Internal ID15495639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18452742..18482841hg38UCSC Ensembl
Outerchr17:18452207..18484114hg38UCSC Ensembl
Innerchr17:18356056..18386155hg19UCSC Ensembl
Outerchr17:18355521..18387428hg19UCSC Ensembl
Innerchr17:18296781..18326880hg18UCSC Ensembl
Outerchr17:18296246..18328153hg18UCSC Ensembl
Innerchr17:18296781..18326880hg17UCSC Ensembl
Outerchr17:18296246..18328153hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3831908
hg1931908
hg1831908
hg1731908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9504
Supporting Variants
SamplesNA19144
Known GenesLGALS9C
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)nssv24929
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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