A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558251



Internal ID331321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:65547956..65547992hg38UCSC Ensembl
chr8:66460191..66460227hg19UCSC Ensembl
Cytoband8q13.1
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 Variantsnssv17013670
Samples
Known GenesLOC286186
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558251
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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