A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5468544



Internal ID246341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146715825..146715973hg38UCSC Ensembl
chr6:147036961..147037109hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16989632
Samples
Known GenesADGB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5468544
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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