A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5523639



Internal ID299865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:37169472..37178189hg38UCSC Ensembl
chr18:34749435..34758152hg19UCSC Ensembl
Cytoband18q12.2
Allele length
AssemblyAllele length
hg388718
hg198718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17717402
Samples
Known GenesKIAA1328
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5523639
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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