A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451548



Internal ID229728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56852412..56862232hg38UCSC Ensembl
chr3:56886440..56896260hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg389821
hg199821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932820
Samples
Known GenesARHGEF3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451548
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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