A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464412



Internal ID242290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:42480283..42490181hg38UCSC Ensembl
chr4:42482300..42492198hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg389899
hg199899
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16949653
Samples
Known GenesATP8A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464412
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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