A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194816



Internal ID20761856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4631601..4633800hg38UCSC Ensembl
chr12:4740767..4742966hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463267
Supporting Variants
Samples
Known GenesAKAP3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194816
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00504


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