A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438726



Internal ID217284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:217782160..217832277hg38UCSC Ensembl
chr2:218646883..218697000hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3850118
hg1950118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16923859
Samples
Known GenesTNS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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