A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552689



Internal ID326014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219072667..219072704hg38UCSC Ensembl
chr2:219937389..219937426hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925976
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552689
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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