A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430155



Internal ID208972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154233513..154233936hg38UCSC Ensembl
chr1:154205989..154206412hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38424
hg19424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16890671
Samples
Known GenesUBAP2L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430155
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