A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5830016



Internal ID22604951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42994352..42997716hg38UCSC Ensembl
chr1:43460023..43463387hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383365
hg193365
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17458277
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5830016
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