A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469049



Internal ID246842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154434825..154442071hg38UCSC Ensembl
chr5:153814385..153821631hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg387247
hg197247
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16975235
Samples
Known GenesSAP30L-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469049
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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