A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375929



Internal ID22601598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:30439539..30439539hg38UCSC Ensembl
chr14:30908745..30908745hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5978240
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375929
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