A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438049



Internal ID216620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47894876..47901140hg38UCSC Ensembl
chr2:48122015..48128279hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg386265
hg196265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16912681
Samples
Known GenesFBXO11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438049
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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