A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5984429



Internal ID21893772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53129453..53129931hg38UCSC Ensembl
chr1:53595125..53595603hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17521452
Samples
Known GenesSLC1A7
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5984429
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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