A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5411512



Internal ID190819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:52580494..52580517hg38UCSC Ensembl
chr5:51876328..51876351hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16967816
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5411512
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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