A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551147



Internal ID324628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:38485022..38485067hg38UCSC Ensembl
chr1:38950694..38950739hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16904733
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551147
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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