A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5441625



Internal ID220091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206058193..206058251hg38UCSC Ensembl
chr2:206922917..206922975hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16922967
Samples
Known GenesINO80D
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5441625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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