A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5419499



Internal ID198630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52204636..52210057hg38UCSC Ensembl
chr1:52670308..52675729hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385422
hg195422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902771
Samples
Known GenesZFYVE9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5419499
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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