A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5894248



Internal ID22669319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49261959..49265293hg38UCSC Ensembl
chr3:49299392..49302726hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383335
hg193335
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427888
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5894248
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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