A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436812



Internal ID215419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85767650..85770764hg38UCSC Ensembl
chr2:85994773..85997887hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383115
hg193115
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16915926
Samples
Known GenesATOH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436812
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