A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430625



Internal ID209429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160230812..160230933hg38UCSC Ensembl
chr1:160200602..160200723hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891366
Samples
Known GenesDCAF8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430625
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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