A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433680



Internal ID212386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13370384..13388384hg38UCSC Ensembl
chr1:13696842..13714844hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3818001
hg1918003
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894712
Samples
Known GenesPRAMEF18, PRAMEF19
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433680
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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