A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527087



Internal ID303193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:11729457..11754447hg38UCSC Ensembl
chr16:11823313..11848303hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg3824991
hg1924991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17704598
Samples
Known GenesTXNDC11, ZC3H7A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527087
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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