A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5855240



Internal ID22630175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:87982727..87984937hg38UCSC Ensembl
chr12:88376504..88378714hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg382211
hg192211
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17468684
Samples
Known GenesC12orf50
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5855240
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