A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5978134



Internal ID22753069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49379459..49379459hg38UCSC Ensembl
chr16:49413370..49413370hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17372702
Samples
Known GenesC16orf78
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5978134
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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