A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5480953



Internal ID258449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128114972..128115685hg38UCSC Ensembl
chr9:130877251..130877964hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027278
Samples
Known GenesLOC100289019
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5480953
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