A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448300



Internal ID226580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203462840..203462941hg38UCSC Ensembl
chr1:203431968..203432069hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894885
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448300
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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