A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10500



Internal ID15845463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:57268458..57273081hg38UCSC Ensembl
Outerchr4:58134624..58139247hg19UCSC Ensembl
Outerchr4:57829381..57834004hg18UCSC Ensembl
Outerchr4:57975552..57980175hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384624
hg194624
hg184624
hg174624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14160, nssv12981
SamplesNA18860, NA19221
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)nsv10500
Frequency
Sample Size31
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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