A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6017008



Internal ID21926351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98004254..98005896hg38UCSC Ensembl
chr8:99016482..99018124hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg381643
hg191643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17588239
Samples
Known GenesMATN2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6017008
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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