A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5838043



Internal ID22612978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145502224..145503723hg38UCSC Ensembl
chr4:146423376..146424875hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17490287, nssv17490286
Samples
Known GenesSMAD1, SMAD1-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5838043
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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