A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558051



Internal ID331126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:174216639..174216690hg38UCSC Ensembl
chr4:175137790..175137841hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16959333
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558051
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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