A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434377



Internal ID213055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177736076..177836571hg38UCSC Ensembl
chr2:178600804..178701298hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38100496
hg19100495
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921178
Samples
Known GenesPDE11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434377
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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