A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17455118



Internal ID22512995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:110456628..110458027hg38UCSC Ensembl
chr12:110894433..110895832hg19UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381400
hg191400
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5859370
Supporting Variants
Samples
Known GenesGPN3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17455118
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