A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479427



Internal ID256952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6547955..6633724hg38UCSC Ensembl
chr8:6405476..6491245hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3885770
hg1985770
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17006677
Samples
Known GenesANGPT2, MCPH1, MIR8055
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5479427
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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