A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5532953



Internal ID308854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3550125..3550911hg38UCSC Ensembl
chr18:3550123..3550909hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715927
Samples
Known GenesDLGAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5532953
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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