A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557892



Internal ID330972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105469105..105469114hg38UCSC Ensembl
chr2:106085562..106085571hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg385968
hg195968
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917094
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557892
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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