A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968371



Internal ID22743306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80990172..80990172hg38UCSC Ensembl
chr16:81023777..81023777hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38336
hg19336
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17386943
Samples
Known GenesCMC2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968371
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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