A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485537



Internal ID21143090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132864740..132865926hg38UCSC Ensembl
chr12:133441326..133442512hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381187
hg191187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999346
Samples
Known GenesCHFR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485537
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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