A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5548858



Internal ID322574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123689969..123690011hg38UCSC Ensembl
chr9:126452248..126452290hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027191
Samples
Known GenesDENND1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5548858
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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