A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475642



Internal ID253279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:100573155..100573233hg38UCSC Ensembl
chr8:101585383..101585461hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014696
Samples
Known GenesSNX31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475642
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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