A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23702



Internal ID15841435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234776920..234821172hg38UCSC Ensembl
Outerchr1:234776324..234822131hg38UCSC Ensembl
Innerchr1:234912667..234956919hg19UCSC Ensembl
Outerchr1:234912071..234957878hg19UCSC Ensembl
Innerchr1:232979290..233023542hg18UCSC Ensembl
Outerchr1:232978694..233024501hg18UCSC Ensembl
Innerchr1:231219402..231263654hg17UCSC Ensembl
Outerchr1:231218806..231264613hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3845808
hg1945808
hg1845808
hg1745808
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8913
Supporting Variants
SamplesNA19007
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)nssv23702
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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