A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558522



Internal ID331581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140682079..140682130hg38UCSC Ensembl
chr4:141603233..141603284hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16955380
Samples
Known GenesTBC1D9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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