A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6431531



Internal ID21089084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143868086..143870896hg38UCSC Ensembl
chr8:144942254..144945064hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382811
hg192811
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18165506
Samples
Known GenesEPPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6431531
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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