A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214787



Internal ID22361332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2126150..2126243hg38UCSC Ensembl
chr19:2126149..2126242hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3894
hg1994
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14291108, nssv14291109
SamplesNA19239, NA19240
Known GenesAP3D1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214787
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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