A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5496417



Internal ID273493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24390187..24447271hg38UCSC Ensembl
chr12:24543121..24600205hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3857085
hg1957085
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17054122
Samples
Known GenesSOX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5496417
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