A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425595



Internal ID204554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:50726245..50726245hg38UCSC Ensembl
chr16:50760156..50760156hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg38314
hg19314
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708975
Samples
Known GenesNOD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425595
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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