A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540166



Internal ID314975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223347734..223347734hg38UCSC Ensembl
chr1:223521076..223521076hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381687
hg191687
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16896001
Samples
Known GenesSUSD4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540166
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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