A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453689



Internal ID231803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:100060504..100097536hg38UCSC Ensembl
chr3:99779348..99816380hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg3837033
hg1937033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935262
Samples
Known GenesCMSS1, FILIP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453689
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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