A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462960



Internal ID240879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:70568585..70568685hg38UCSC Ensembl
chr6:71278288..71278388hg19UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984112
Samples
Known GenesC6orf57
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462960
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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