A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471417



Internal ID249152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29699557..29706792hg38UCSC Ensembl
chr6:29667334..29674569hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg387236
hg197236
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982486
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471417
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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