A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5431999



Internal ID210758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:49448841..49532906hg38UCSC Ensembl
chr1:49914513..49998578hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3884066
hg1984066
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902875
Samples
Known GenesAGBL4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5431999
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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