A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451678



Internal ID229853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:136709000..136714000hg38UCSC Ensembl
chr3:136427842..136432842hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16939677
Samples
Known GenesSTAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451678
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