A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5946741



Internal ID22722237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23066348..23066521hg38UCSC Ensembl
chr14:23535557..23535730hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387731
Samples
Known GenesACIN1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5946741
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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