A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445977



Internal ID224312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:221323763..221325255hg38UCSC Ensembl
chr1:221497105..221498597hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895919
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445977
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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