A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17463541



Internal ID22521427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:93431336..93435188hg38UCSC Ensembl
chr12:93825112..93828964hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg383853
hg193853
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5861426
Supporting Variants
Samples
Known GenesUBE2N
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17463541
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