A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3191406



Internal ID22342117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227954618..227956239hg38UCSC Ensembl
chr2:228819334..228820955hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381622
hg191622
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14298195
SamplesHG00731
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3191406
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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