A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6471061



Internal ID21128614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46486998..46491100hg38UCSC Ensembl
chr12:46880781..46884883hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg384103
hg194103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000472
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6471061
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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