A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451116



Internal ID229302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211393000..211393053hg38UCSC Ensembl
chr2:212257725..212257778hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923723
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451116
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