A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424224



Internal ID203220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5980830..5980884hg38UCSC Ensembl
chr1:6040890..6040944hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905772
Samples
Known GenesNPHP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424224
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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