A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415793



Internal ID195041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166399450..166401885hg38UCSC Ensembl
chr1:166368687..166371122hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg382436
hg192436
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891539
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415793
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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