A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419486



Internal ID198617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159857987..159858059hg38UCSC Ensembl
chr1:159827777..159827849hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891329
Samples
Known GenesVSIG8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419486
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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