A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453407



Internal ID231529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:192057934..192088519hg38UCSC Ensembl
chr1:192027064..192057649hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3830586
hg1930586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16894012
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453407
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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