A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5424886



Internal ID203859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11936770..11937095hg38UCSC Ensembl
chr1:11996827..11997152hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893628
Samples
Known GenesPLOD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5424886
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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