A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551131



Internal ID324612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48387678..48387678hg38UCSC Ensembl
chr8:49300238..49300238hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010882
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551131
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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