A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444604



Internal ID222975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72425696..72425915hg38UCSC Ensembl
chr3:72474847..72475066hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935743
Samples
Known GenesRYBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444604
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