A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440049



Internal ID218572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205857188..205876449hg38UCSC Ensembl
chr1:205826316..205845577hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3819262
hg1919262
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896034
Samples
Known GenesLOC284581
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5440049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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