A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10498



Internal ID15845461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56672991..56678917hg38UCSC Ensembl
Outerchr4:57539157..57545083hg19UCSC Ensembl
Outerchr4:57233914..57239840hg18UCSC Ensembl
Outerchr4:57380085..57386011hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg385927
hg195927
hg185927
hg175927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13137, nssv12511, nssv12088
SamplesNA19132, NA19240, NA19144
Known GenesHOPX
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)nsv10498
Frequency
Sample Size31
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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