A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976196



Internal ID22751131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:60696064..60696064hg38UCSC Ensembl
chr18:58363297..58363297hg19UCSC Ensembl
Cytoband18q21.32
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17384285
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976196
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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