A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453560



Internal ID231679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110137618..110196000hg38UCSC Ensembl
chr2:110895195..110953577hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3858383
hg1958383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918179
Samples
Known GenesNPHP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453560
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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