A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6464811



Internal ID21122364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:44782071..44782549hg38UCSC Ensembl
chr12:45175854..45176332hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001361
Samples
Known GenesNELL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6464811
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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