A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5553401



Internal ID326652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:12685830..12685830hg38UCSC Ensembl
chr5:12685942..12685942hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3820137
hg1920137
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16962045
Samples
Known GenesCT49
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5553401
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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