A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974213



Internal ID22749148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:16510964..16510964hg38UCSC Ensembl
chr12:16663898..16663898hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38551
hg19551
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353370
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974213
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