A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438681



Internal ID217241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:136323737..136331100hg38UCSC Ensembl
chr2:137081307..137088670hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg387364
hg197364
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16919704
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438681
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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