A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6467791



Internal ID21125344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:72393239..72393858hg38UCSC Ensembl
chr12:72787019..72787638hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38620
hg19620
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18003988
Samples
Known GenesTRHDE
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6467791
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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