A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435100



Internal ID213754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39211144..39289872hg38UCSC Ensembl
chr2:39438285..39517013hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3878729
hg1978729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912529
Samples
Known GenesCDKL4, MAP4K3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435100
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