A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977531



Internal ID22752466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:23180597..23180597hg38UCSC Ensembl
chr16:23191918..23191918hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17381441
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977531
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