A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439641



Internal ID218176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:205050280..205050330hg38UCSC Ensembl
chr1:205019408..205019458hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894746
Samples
Known GenesCNTN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439641
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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