A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466434



Internal ID244272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52526849..52528584hg38UCSC Ensembl
chr6:52391647..52393382hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg381736
hg191736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982807
Samples
Known GenesTRAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466434
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