A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443922



Internal ID222306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73643309..73703619hg38UCSC Ensembl
chr2:73870436..73930746hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3860311
hg1960311
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915474
Samples
Known GenesALMS1P, NAT8B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443922
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