A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5524949



Internal ID301130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3489426..3490632hg38UCSC Ensembl
chr18:3489424..3490630hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381207
hg191207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17715222
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5524949
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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