A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5563261



Internal ID336198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222721200..222721251hg38UCSC Ensembl
chr2:223585919..223585970hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923956
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5563261
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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