A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458181



Internal ID236210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145554734..145555030hg38UCSC Ensembl
chr4:146475886..146476182hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956547
Samples
Known GenesSMAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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