A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5491675



Internal ID268908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60305599..60311873hg38UCSC Ensembl
chr8:61218158..61224432hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg386275
hg196275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17012487
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5491675
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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