A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24130



Internal ID15489765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45511160..45531221hg38UCSC Ensembl
Outerchr17:45510362..45531318hg38UCSC Ensembl
Innerchr17:43588526..43608587hg19UCSC Ensembl
Outerchr17:43587728..43608684hg19UCSC Ensembl
Innerchr17:40944309..40964370hg18UCSC Ensembl
Outerchr17:40943511..40964467hg18UCSC Ensembl
Innerchr17:40944309..40964370hg17UCSC Ensembl
Outerchr17:40943511..40964467hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3820957
hg1920957
hg1820957
hg1720957
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9563
Supporting Variants
SamplesNA18564
Known GenesLRRC37A4P
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)nssv24130
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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