A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5828979



Internal ID22603914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196970009..196983017hg38UCSC Ensembl
chr1:196939139..196952147hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3813009
hg1913009
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17466604
Samples
Known GenesCFHR5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5828979
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