A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466550



Internal ID244383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:27711907..27849290hg38UCSC Ensembl
chr6:27679686..27817068hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38137384
hg19137383
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16980876
Samples
Known GenesHIST1H2AI, HIST1H2AJ, HIST1H2AK, HIST1H2BL, HIST1H2BM, HIST1H2BN, HIST1H3H, HIST1H4J, HIST1H4K, LOC100131289
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466550
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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