A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5462086



Internal ID240021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27798000..27892000hg38UCSC Ensembl
chr6:27765779..27859778hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3894001
hg1994000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980886
Samples
Known GenesHIST1H1B, HIST1H2AI, HIST1H2AJ, HIST1H2AK, HIST1H2AL, HIST1H2BL, HIST1H2BM, HIST1H2BN, HIST1H3H, HIST1H3I, HIST1H3J, HIST1H4J, HIST1H4K, HIST1H4L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5462086
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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