A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv28360



Internal ID15496927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:248576677..248586807hg38UCSC Ensembl
Outerchr1:248576321..248590415hg38UCSC Ensembl
Innerchr1:248739978..248750108hg19UCSC Ensembl
Outerchr1:248739622..248753716hg19UCSC Ensembl
Innerchr1:246806601..246816731hg18UCSC Ensembl
Outerchr1:246806245..246820339hg18UCSC Ensembl
Innerchr1:245066019..245076149hg17UCSC Ensembl
Outerchr1:245065663..245079757hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3814095
hg1914095
hg1814095
hg1714095
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9191
Supporting Variants
SamplesNA19221
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)nssv28360
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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