A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18181521



Internal ID20748561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:78269477..78491096hg38UCSC Ensembl
chr12:78663257..78884876hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg38221620
hg19221620
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6466281
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18181521
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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