A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6431793



Internal ID21089346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118263773..118487882hg38UCSC Ensembl
chr8:119276012..119500121hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38224110
hg19224110
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18164388
Samples
Known GenesSAMD12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6431793
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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