A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848969



Internal ID22623904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:20714335..20724062hg38UCSC Ensembl
chr12:20867269..20876996hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg389728
hg199728
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17451519
Samples
Known GenesSLCO1C1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848969
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