A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5418241



Internal ID197418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:107074897..107076117hg38UCSC Ensembl
chr1:107617519..107618739hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg381221
hg191221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907226
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5418241
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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