A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547028



Internal ID320916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:110101065..110101065hg38UCSC Ensembl
chr2:110858642..110858642hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917254
Samples
Known GenesMALL
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547028
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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