A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5531031



Internal ID306994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:77092593..77092721hg38UCSC Ensembl
chr18:74804549..74804677hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38129
hg19129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17719680
Samples
Known GenesMBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5531031
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