A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458234



Internal ID236263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145542045..145542139hg38UCSC Ensembl
chr4:146463197..146463291hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3895
hg1995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16956546
Samples
Known GenesSMAD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458234
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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