A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470853



Internal ID248600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42783355..42783443hg38UCSC Ensembl
chr6:42751093..42751181hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3889
hg1989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984690
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470853
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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