A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5558488



Internal ID331547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94156116..94156151hg38UCSC Ensembl
chr8:95168344..95168379hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg381314
hg191314
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17014537
Samples
Known GenesCDH17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5558488
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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