A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17031305



Internal ID88569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:135875370..135876112hg38UCSC Ensembl
chr9:138767216..138767958hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg38743
hg19743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5488115
Supporting Variants
Samples
Known GenesCAMSAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17031305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer