A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445611



Internal ID223956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208069647..208077110hg38UCSC Ensembl
chr2:208934371..208941834hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg387464
hg197464
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16928024
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445611
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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