A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5549792



Internal ID323412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:89383557..89383607hg38UCSC Ensembl
chr5:88679374..88679424hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16968904
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5549792
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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