A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5493698



Internal ID270868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129926469..129926734hg38UCSC Ensembl
chr7:129566309..129566574hg19UCSC Ensembl
Cytoband7q32.2
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17003179
Samples
Known GenesUBE2H
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5493698
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