A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444002



Internal ID222384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238381743..238387016hg38UCSC Ensembl
chr2:239290384..239295657hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385274
hg195274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927094
Samples
Known GenesTRAF3IP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444002
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