A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451246



Internal ID229432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:184109693..184109755hg38UCSC Ensembl
chr1:184078827..184078889hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892860
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451246
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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