A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6458707



Internal ID21116260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:12813256..12816045hg38UCSC Ensembl
chr12:12966190..12968979hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg382790
hg192790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997520
Samples
Known GenesDDX47
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6458707
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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