A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5832570



Internal ID22607505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237341250..237343881hg38UCSC Ensembl
chr2:238249893..238252524hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382632
hg192632
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17483408, nssv17483407
Samples
Known GenesCOL6A3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5832570
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