A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978333



Internal ID22753268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:62278583..62278583hg38UCSC Ensembl
chr18:59945816..59945816hg19UCSC Ensembl
Cytoband18q21.33
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17389185
Samples
Known GenesKIAA1468
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978333
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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