A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv829597



Internal ID6134687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105470903..105474871hg19UCSC Ensembl
Innerchr2:104837335..104841303hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1432672
SamplesNA18972
Known GenesPOU3F3
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv829597
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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