A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5444808



Internal ID223173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223447280..223472347hg38UCSC Ensembl
chr1:223620622..223645689hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3825068
hg1925068
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896013
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5444808
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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