A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5560352



Internal ID333362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210183169..210183220hg38UCSC Ensembl
chr2:211047893..211047944hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38444
hg19444
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16924827
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5560352
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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