A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560226



Internal ID333238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16464200..16464251hg38UCSC Ensembl
chr5:16464309..16464360hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg386019
hg196019
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962850
Samples
Known GenesZNF622
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560226
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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