A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3190506



Internal ID22341360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:3267301..3270350hg38UCSC Ensembl
chr5:3267415..3270464hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg383050
hg193050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14321442, nssv14321443, nssv14321446, nssv14321439, nssv14321447, nssv14321440, nssv14321444, nssv14321445, nssv14321441
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3190506
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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