A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551229



Internal ID324705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:55003057..55003060hg38UCSC Ensembl
chr1:55468730..55468733hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906007
Samples
Known GenesBSND
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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