A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv822437



Internal ID6135477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:1494917..1897303hg19UCSC Ensembl
Innerchr4:1464245..1867101hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1435017
SamplesNA18942
Known GenesFAM53A, FGFR3, LETM1, SLBP, TACC3, TMEM129, WHSC1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv822437
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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