A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2832472



Internal ID15700950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41375650..41380442hg38UCSC Ensembl
Innerchr17:39531902..39536694hg19UCSC Ensembl
Innerchr17:36785428..36790220hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg384793
hg194793
hg184793
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514845
Supporting Variants
SamplesNA18908
Known GenesKRT34
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2832472
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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