A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5405508



Internal ID184852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:87268612..87268663hg38UCSC Ensembl
chr3:87317762..87317813hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16935999
Samples
Known GenesPOU1F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5405508
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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