A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5829094



Internal ID22604029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:204543536..204546035hg38UCSC Ensembl
chr1:204512664..204515163hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg382500
hg192500
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17451198
Samples
Known GenesMDM4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5829094
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