A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3223538



Internal ID22367275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:97875713..97876208hg38UCSC Ensembl
chr8:98887941..98888436hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14342088, nssv14342089
SamplesHG00731, HG00732
Known GenesMATN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3223538
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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