A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5467606



Internal ID245416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82903396..82904295hg38UCSC Ensembl
chr4:83824549..83825448hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16951480
Samples
Known GenesTHAP9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5467606
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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