A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5827918



Internal ID22602853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111290859..111381947hg38UCSC Ensembl
chr1:111833481..111924569hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3891089
hg1991089
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17452737
Samples
Known GenesCHIA, PIFO
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5827918
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer