A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941807



Internal ID22717238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77812613..77818218hg38UCSC Ensembl
chr14:78278956..78284561hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385606
hg195606
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17373139
Samples
Known GenesADCK1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941807
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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