A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447081



Internal ID225394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:123682041..123691420hg38UCSC Ensembl
chr2:124439617..124448996hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389380
hg199380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918162
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447081
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