A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv823347



Internal ID6136387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:170819994..170845564hg19UCSC Ensembl
Innerchr5:170752599..170778169hg18UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1438853
SamplesNA18973
Known GenesNPM1
Method
AnalysisIdentical to variant call (no regions submitted)
PlatformAgilent 24M aCGH
Comments
ReferencePark_et_al_2010
Pubmed ID20364138
Accession Number(s)nsv823347
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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