A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429568



Internal ID208411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:52155377..52156945hg38UCSC Ensembl
chr1:52621049..52622617hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381569
hg191569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902768
Samples
Known GenesZFYVE9
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429568
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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