A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894762



Internal ID22669837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48237809..48249293hg38UCSC Ensembl
chr3:48279299..48290783hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3811485
hg1911485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17421100
Samples
Known GenesZNF589
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894762
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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