A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5518083



Internal ID294479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75319735..75350715hg38UCSC Ensembl
chr16:75353633..75384613hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3830981
hg1930981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17710170
Samples
Known GenesCFDP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5518083
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