A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969566



Internal ID22744501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28160503..28160503hg38UCSC Ensembl
chr16:28171824..28171824hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388977
Samples
Known GenesXPO6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969566
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