A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14101337



Internal ID21280377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:12828752..12839932hg38UCSC Ensembl
Innerchr19:12939566..12950746hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3811181
hg1911181
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3112737
Supporting Variants
Samplessample296
Known GenesMAST1, RTBDN
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14101337
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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