A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5437978



Internal ID216552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224097817..224102763hg38UCSC Ensembl
chr1:224285519..224290465hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg384947
hg194947
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896358
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5437978
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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