A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484240



Internal ID261657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:42043385..42043750hg38UCSC Ensembl
chr7:42082984..42083349hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995214
Samples
Known GenesGLI3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484240
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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