A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5891803



Internal ID22666845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48856336..48858075hg38UCSC Ensembl
chr3:48893769..48895508hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg381740
hg191740
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17419885
Samples
Known GenesSLC25A20
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5891803
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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