A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448380



Internal ID226658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184050900..184055286hg38UCSC Ensembl
chr3:183768688..183773074hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg384387
hg194387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16943304
Samples
Known GenesHTR3C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448380
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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