A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012126



Internal ID75753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73978358..73978675hg38UCSC Ensembl
chr8:74890593..74890910hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5480601
Supporting Variants
Samples
Known GenesTMEM70
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012126
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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