A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6418138



Internal ID21075691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132221508..132297028hg38UCSC Ensembl
chr8:133233755..133309275hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3875521
hg1975521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18165687
Samples
Known GenesKCNQ3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6418138
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