A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419099



Internal ID198247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77357296..77357425hg38UCSC Ensembl
chr1:77822981..77823110hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905361
Samples
Known GenesAK5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419099
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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