A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5446372



Internal ID224696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56630095..56631669hg38UCSC Ensembl
chr3:56664123..56665697hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381575
hg191575
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932804
Samples
Known GenesFAM208A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5446372
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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