A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429269



Internal ID208119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27003497..27030532hg38UCSC Ensembl
chr1:27329988..27357023hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3827036
hg1927036
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900402
Samples
Known GenesFAM46B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429269
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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