A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425043



Internal ID204017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93333478..93333584hg38UCSC Ensembl
chr1:93799035..93799141hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908342
Samples
Known GenesLOC100131564
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425043
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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