A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3214756



Internal ID22361313
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97883274..97883584hg38UCSC Ensembl
chr8:98895502..98895812hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342090
SamplesHG00513
Known GenesMATN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3214756
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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