A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14342088



Internal ID22195894
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3223538
Supporting Variants
SamplesHG00731
Known GenesMATN2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14342088
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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