A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447399



Internal ID225703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207756475..207756554hg38UCSC Ensembl
chr1:207929820..207929899hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895023
Samples
Known GenesCD46
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447399
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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