A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5443473



Internal ID221870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217362597..217386902hg38UCSC Ensembl
chr1:217535939..217560244hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3824306
hg1924306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896727
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5443473
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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