A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18194919



Internal ID20761959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:39674629..39688273hg38UCSC Ensembl
chr12:40068431..40082075hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3813645
hg1913645
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457885
Supporting Variants
Samples
Known GenesC12orf40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18194919
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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