A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492542



Internal ID269752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130206708..130206919hg38UCSC Ensembl
chr8:131218954..131219165hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38212
hg19212
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17017226
Samples
Known GenesASAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492542
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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