A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546554



Internal ID320490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134960841..134960846hg38UCSC Ensembl
chr8:135973084..135973089hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17019762
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546554
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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