A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468218



Internal ID246019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147303905..147304094hg38UCSC Ensembl
chr4:148225057..148225246hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38190
hg19190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955985
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468218
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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