A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5514756



Internal ID291248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3594000..3600000hg38UCSC Ensembl
chr18:3593998..3599998hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715931
Samples
Known GenesDLGAP1, DLGAP1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5514756
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