A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5508241



Internal ID284936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99884143..100078827hg38UCSC Ensembl
chr12:100277921..100472605hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38194685
hg19194685
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17690284
Samples
Known GenesANKS1B, UHRF1BP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5508241
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