A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2827879



Internal ID15249075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31257390..31262408hg38UCSC Ensembl
Innerchr17:29584408..29589426hg19UCSC Ensembl
Innerchr17:26608534..26613552hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385019
hg195019
hg185019
Variant TypeCNV gain
Copy Number5
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514835
Supporting Variants
SamplesNA07347
Known GenesNF1
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2827879
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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