A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473881



Internal ID21131434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:65943670..65944312hg38UCSC Ensembl
chr12:66337450..66338092hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38643
hg19643
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003030
Samples
Known GenesHMGA2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473881
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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