A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472031



Internal ID249751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79893039..79902175hg38UCSC Ensembl
chr4:80814193..80823329hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg389137
hg199137
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953116
Samples
Known GenesANTXR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472031
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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