A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17507625



Internal ID22565573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143322295..143339296hg38UCSC Ensembl
chr8:144404465..144421466hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3817002
hg1917002
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5855127
Supporting Variants
Samples
Known GenesTOP1MT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17507625
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