A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23382



Internal ID15835413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242879508..243023054hg38UCSC Ensembl
Outerchr1:242878896..243025120hg38UCSC Ensembl
Innerchr1:243042810..243186356hg19UCSC Ensembl
Outerchr1:243042198..243188422hg19UCSC Ensembl
Innerchr1:241109433..241252979hg18UCSC Ensembl
Outerchr1:241108821..241255045hg18UCSC Ensembl
Innerchr1:239368851..239512397hg17UCSC Ensembl
Outerchr1:239368239..239514463hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38146225
hg19146225
hg18146225
hg17146225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9003
Supporting Variants
SamplesNA18552
Known Genes
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)nssv23382
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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