A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558580



Internal ID331639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:103134559..103134610hg38UCSC Ensembl
chr8:104146787..104146838hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014287
Samples
Known GenesC8orf56
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558580
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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