A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24730



Internal ID15829409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:64316173..64327532hg38UCSC Ensembl
Outerchr20:64304768..64328570hg38UCSC Ensembl
Innerchr20:62947526..62958885hg19UCSC Ensembl
Outerchr20:62936121..62959923hg19UCSC Ensembl
Innerchr20:62417970..62429329hg18UCSC Ensembl
Outerchr20:62406565..62430367hg18UCSC Ensembl
Innerchr20:62417970..62429329hg17UCSC Ensembl
Outerchr20:62406565..62430367hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3823803
hg1923803
hg1823803
hg1723803
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9836
Supporting Variants
SamplesNA10863
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)nssv24730
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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