A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5469549



Internal ID247332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:97142728..97142898hg38UCSC Ensembl
chr6:97590604..97590774hg19UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38171
hg19171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986942
Samples
Known GenesMIR548H3, MMS22L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5469549
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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