A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456116



Internal ID234185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:143601534..143603650hg38UCSC Ensembl
chr4:144522687..144524803hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382117
hg192117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956491
Samples
Known GenesFREM3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456116
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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