A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830515



Internal ID22605450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85906222..85921254hg38UCSC Ensembl
chr1:86371905..86386937hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3815033
hg1915033
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17481833
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830515
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