A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5542555



Internal ID316964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177625425..177625425hg38UCSC Ensembl
chr5:177052426..177052426hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16976821
Samples
Known GenesLOC202181
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5542555
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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