A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5485645



Internal ID263031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42096077..42129328hg38UCSC Ensembl
chr7:42135676..42168927hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3833252
hg1933252
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995216
Samples
Known GenesGLI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5485645
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