A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829587



Internal ID6134677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105440370..105501404hg19UCSC Ensembl
Innerchr2:104806802..104867836hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1434939
SamplesNA18942
Known GenesLOC100506421, POU3F3
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv829587
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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