A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5472290



Internal ID250006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:79943381..79966000hg38UCSC Ensembl
chr4:80864535..80887154hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3822620
hg1922620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16953123
Samples
Known GenesANTXR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5472290
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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