A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11596



Internal ID15835234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1762209..1784348hg38UCSC Ensembl
Outerchr4:1761205..1785146hg38UCSC Ensembl
Innerchr4:1763936..1786075hg19UCSC Ensembl
Outerchr4:1762932..1786873hg19UCSC Ensembl
Innerchr4:1733734..1755873hg18UCSC Ensembl
Outerchr4:1732730..1756671hg18UCSC Ensembl
Innerchr4:1731167..1753306hg17UCSC Ensembl
Outerchr4:1730163..1754104hg17UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3823942
hg1923942
hg1823942
hg1723942
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10423
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)nssv11596
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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