A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5449010



Internal ID227259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:214866771..214866831hg38UCSC Ensembl
chr1:215040114..215040174hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896241
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5449010
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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