A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21125



Internal ID15482466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46532267..46546991hg38UCSC Ensembl
Outerchr17:46531835..46548006hg38UCSC Ensembl
Innerchr17:44609633..44624357hg19UCSC Ensembl
Outerchr17:44609201..44625372hg19UCSC Ensembl
Innerchr17:41964949..41979673hg18UCSC Ensembl
Outerchr17:41964517..41980688hg18UCSC Ensembl
Innerchr17:41964949..41979673hg17UCSC Ensembl
Outerchr17:41964517..41980688hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3816172
hg1916172
hg1816172
hg1716172
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10847
Known GenesARL17A, LRRC37A2
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)nssv21125
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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