A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5489809



Internal ID267081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49235267..49245495hg38UCSC Ensembl
chr7:49274863..49285091hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg3810229
hg1910229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16995365
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5489809
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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