A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890996



Internal ID22666028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145497763..145505192hg38UCSC Ensembl
chr4:146418915..146426344hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg387430
hg197430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17423182
Samples
Known GenesSMAD1, SMAD1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890996
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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