A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415465



Internal ID194722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179503219..179503299hg38UCSC Ensembl
chr1:179472354..179472434hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893605
Samples
Known GenesAXDND1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415465
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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