A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434954



Internal ID213614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:31405126..31416723hg38UCSC Ensembl
chr2:31627992..31639589hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3811598
hg1911598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16910709
Samples
Known GenesXDH
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434954
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