A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17506179



Internal ID22564125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123381661..123383817hg38UCSC Ensembl
chr8:124393901..124396057hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382157
hg192157
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854918
Supporting Variants
Samples
Known GenesATAD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17506179
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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