A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978548



Internal ID22753484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57493723..57493723hg38UCSC Ensembl
chr14:57960441..57960441hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389117
Samples
Known GenesC14orf105
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978548
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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