A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371824



Internal ID22597493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:49314212..49314212hg38UCSC Ensembl
chr14:49780930..49780930hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38249
hg19249
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978181
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371824
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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