A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13212



Internal ID15832639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:49523801..49557742hg38UCSC Ensembl
Outerchr4:49520442..49558439hg38UCSC Ensembl
Innerchr4:49525818..49559759hg19UCSC Ensembl
Outerchr4:49522459..49560456hg19UCSC Ensembl
Innerchr4:49220575..49254516hg18UCSC Ensembl
Outerchr4:49217216..49255213hg18UCSC Ensembl
Innerchr4:49366746..49400687hg17UCSC Ensembl
Outerchr4:49363387..49401384hg17UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3837998
hg1937998
hg1837998
hg1737998
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10491
Supporting Variants
SamplesNA18502
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)nssv13212
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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