A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977284



Internal ID22752219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:49099114..49099114hg38UCSC Ensembl
chr16:49133025..49133025hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377297
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977284
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