A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483930



Internal ID261356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47965720..47972749hg38UCSC Ensembl
chr8:48878280..48885309hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg387030
hg197030
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010824
Samples
Known GenesMCM4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483930
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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