A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968197



Internal ID22743132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54378372..54378372hg38UCSC Ensembl
chr16:54412284..54412284hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381266
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968197
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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