A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549226



Internal ID322910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112137591..112137591hg38UCSC Ensembl
chr3:111856438..111856438hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16936382
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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