A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16905121



Internal ID4228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77990482..77990533hg38UCSC Ensembl
chr1:78456166..78456217hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556671
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16905121
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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