A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5848984



Internal ID22623919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98648224..98653458hg38UCSC Ensembl
chr12:99042002..99047236hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg385235
hg195235
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17463867
Samples
Known GenesAPAF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5848984
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