A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366689



Internal ID22592358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49962495..49962495hg38UCSC Ensembl
chr12:50356278..50356278hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968503
Supporting Variants
Samples
Known GenesAQP5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366689
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer