A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972125



Internal ID22747060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57161447..57161447hg38UCSC Ensembl
chr18:54828678..54828678hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38391
hg19391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371045
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972125
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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