A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552787



Internal ID326098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200266352..200266352hg38UCSC Ensembl
chr1:200235480..200235480hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895473
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552787
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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