A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437241



Internal ID215835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:109794674..109794809hg38UCSC Ensembl
chr2:110552251..110552386hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917236
Samples
Known GenesRGPD5, RGPD6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437241
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