A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5463891



Internal ID241780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:121248074..121280068hg38UCSC Ensembl
chr6:121569220..121601214hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3831995
hg1931995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16987584
Samples
Known GenesTBC1D32
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5463891
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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