A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562245



Internal ID335203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232488690..232488741hg38UCSC Ensembl
chr2:233353400..233353451hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38841
hg19841
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928622
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562245
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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