A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434694



Internal ID213362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185149513..185149709hg38UCSC Ensembl
chr1:185118645..185118841hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16893343
Samples
Known GenesTRMT1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434694
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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