A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975575



Internal ID22750510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:19077590..19077590hg38UCSC Ensembl
chr16:19088912..19088912hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg38272
hg19272
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387553
Samples
Known GenesCOQ7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975575
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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