A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5478542



Internal ID256093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:40811665..40811832hg38UCSC Ensembl
chr8:40669184..40669351hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17010743
Samples
Known GenesZMAT4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5478542
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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