A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497394



Internal ID274430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:118033354..118036205hg38UCSC Ensembl
chr10:119792865..119795716hg19UCSC Ensembl
Cytoband10q26.11
Allele length
AssemblyAllele length
hg382852
hg192852
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17040776
Samples
Known GenesRAB11FIP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497394
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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