A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415487



Internal ID194745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17768315..17768365hg38UCSC Ensembl
chr1:18094810..18094860hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16899169
Samples
Known GenesACTL8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415487
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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