A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543101



Internal ID195584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70277055..70277068hg38UCSC Ensembl
chr11:70123161..70123174hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3880
hg1980
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17046423
Samples
Known GenesPPFIA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543101
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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