A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557675



Internal ID330766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100630531..100630582hg38UCSC Ensembl
chr1:101096087..101096138hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38452
hg19452
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907076
Samples
Known GenesLOC100128787
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557675
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