A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5423659



Internal ID202674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119373452..119373505hg38UCSC Ensembl
chr1:119916075..119916128hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16888969
Samples
Known GenesHAO2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5423659
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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