A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5481743



Internal ID259213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:37008648..37008737hg38UCSC Ensembl
chr9:37008645..37008734hg19UCSC Ensembl
Cytoband9p13.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024711
Samples
Known GenesPAX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5481743
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