A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445270



Internal ID223625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239194427..239195129hg38UCSC Ensembl
chr2:240116123..240116825hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928753
Samples
Known GenesHDAC4, MGC16025
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445270
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