A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424905



Internal ID203878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:56689828..56689828hg38UCSC Ensembl
chr18:54357059..54357059hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38332
hg19332
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17718433
Samples
Known GenesWDR7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424905
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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