A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179682



Internal ID20746722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103783422..103783715hg38UCSC Ensembl
chr12:104177200..104177493hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38294
hg19294
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462918
Supporting Variants
Samples
Known GenesNT5DC3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179682
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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