A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556425



Internal ID329562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64951445..64951496hg38UCSC Ensembl
chr2:65178579..65178630hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16914565
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556425
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