A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2832579



Internal ID15425273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41578206..41585094hg38UCSC Ensembl
Innerchr17:39734458..39741346hg19UCSC Ensembl
Innerchr17:36987984..36994872hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
Variant TypeCNV gain
Copy Number6
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514846
Supporting Variants
SamplesNA19249
Known GenesKRT14
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2832579
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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