A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17456254



Internal ID22514131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30854696..30855795hg38UCSC Ensembl
chr12:31007630..31008729hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeOTHER copy number variation
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5854132
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17456254
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