A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5482028



Internal ID259491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27741367..27744800hg38UCSC Ensembl
chr8:27598884..27602317hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg383434
hg193434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010094
Samples
Known GenesCCDC25
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5482028
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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