A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430100



Internal ID208926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5971423..5981214hg38UCSC Ensembl
chr1:6031483..6041274hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg389792
hg199792
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905739
Samples
Known GenesNPHP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430100
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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