A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414194



Internal ID193480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3112516..3112567hg38UCSC Ensembl
chr16:3162517..3162568hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17706333
Samples
Known GenesZNF205, ZNF205-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414194
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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