A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446490



Internal ID224813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69330490..69335475hg38UCSC Ensembl
chr3:69379641..69384626hg19UCSC Ensembl
Cytoband3p14.1
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934065
Samples
Known GenesFRMD4B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446490
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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