A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438449



Internal ID217013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49180846..49195630hg38UCSC Ensembl
chr3:49218279..49233063hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3814785
hg1914785
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933793
Samples
Known GenesC3orf84
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438449
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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