A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967209



Internal ID45451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78328205..78328912hg38UCSC Ensembl
chr5:77624029..77624736hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38708
hg19708
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461773
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00359


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