A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976106



Internal ID22751041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:88141746..88141746hg38UCSC Ensembl
chr14:88608090..88608090hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376612
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976106
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