A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555111



Internal ID328277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89118578..89118629hg38UCSC Ensembl
chr1:89584261..89584312hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38976
hg19976
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905584
Samples
Known GenesGBP2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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