A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6478307



Internal ID21135860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111654304..111658092hg38UCSC Ensembl
chr12:112092108..112095896hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383789
hg193789
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996983
Samples
Known GenesBRAP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6478307
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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