A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540654



Internal ID293970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:37867477..37867477hg38UCSC Ensembl
chr8:37724995..37724995hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010620
Samples
Known GenesRAB11FIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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