A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3209476



Internal ID22357547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114241708..114241794hg38UCSC Ensembl
chr5:113577405..113577491hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7485n152
Supporting Variantsnssv14321695, nssv14321693, nssv14321694
SamplesNA19239, HG00732, NA19240
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3209476
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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