A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429071



Internal ID207928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39565475..39565566hg38UCSC Ensembl
chr1:40031147..40031238hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901637
Samples
Known GenesPABPC4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429071
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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