A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5435629



Internal ID214267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69853375..69854687hg38UCSC Ensembl
chr2:70080507..70081819hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381313
hg191313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914020
Samples
Known GenesGMCL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5435629
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