A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478602



Internal ID256154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132704406..132715001hg38UCSC Ensembl
chr8:133716652..133727247hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3810596
hg1910596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17018675
Samples
Known GenesTMEM71
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478602
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer