A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549252



Internal ID322933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216074447..216074497hg38UCSC Ensembl
chr2:216939170..216939220hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924614
Samples
Known GenesPECR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549252
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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