A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190844



Internal ID20757884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67069901..67072700hg38UCSC Ensembl
chr12:67463681..67466480hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg382800
hg192800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475353
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190844
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00053


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