A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5451217



Internal ID229403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186429644..186429725hg38UCSC Ensembl
chr1:186398776..186398857hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893195
Samples
Known GenesMIR548F1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5451217
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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