A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28353



Internal ID15839850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:242879508..242932602hg38UCSC Ensembl
Outerchr1:242878896..242940152hg38UCSC Ensembl
Innerchr1:243042810..243095904hg19UCSC Ensembl
Outerchr1:243042198..243103454hg19UCSC Ensembl
Innerchr1:241109433..241162527hg18UCSC Ensembl
Outerchr1:241108821..241170077hg18UCSC Ensembl
Innerchr1:239368851..239421945hg17UCSC Ensembl
Outerchr1:239368239..239429495hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3861257
hg1961257
hg1861257
hg1761257
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9003
Supporting Variants
SamplesNA18972
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)nssv28353
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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