A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5541250



Internal ID315877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:24683759..24683759hg38UCSC Ensembl
chr6:24683987..24683987hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg38697
hg19697
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980803
Samples
Known GenesACOT13
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5541250
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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