A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429305



Internal ID208155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59319562..59367320hg38UCSC Ensembl
chr1:59785234..59832992hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3847759
hg1947759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903465
Samples
Known GenesFGGY
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429305
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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