A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18234512



Internal ID20801552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144740729..144766570hg38UCSC Ensembl
chr8:145966114..145991955hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3825842
hg1925842
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6424402
Supporting Variants
Samples
Known GenesZNF251
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18234512
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00031


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