A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16956469



Internal ID38284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143313526..143313565hg38UCSC Ensembl
chr4:144234679..144234718hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5549620
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16956469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001561


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer