A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5550867



Internal ID324368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151785225..151785272hg38UCSC Ensembl
chr5:151164786..151164833hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975158
Samples
Known GenesG3BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5550867
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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