A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5536952



Internal ID312338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42700297..42700334hg38UCSC Ensembl
chr3:42741789..42741826hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16931922
Samples
Known GenesHHATL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5536952
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