A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449702



Internal ID227932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:211775904..211775969hg38UCSC Ensembl
chr2:212640629..212640694hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17730078
Samples
Known GenesERBB4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449702
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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