A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5979054



Internal ID22753989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51315688..51315688hg38UCSC Ensembl
chr19:51818942..51818942hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38137
hg19137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396479
Samples
Known GenesIGLON5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5979054
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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