A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190730



Internal ID20757770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100188995..100250654hg38UCSC Ensembl
chr12:100582773..100644432hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3861660
hg1961660
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6469302
Supporting Variants
Samples
Known GenesACTR6, MIR1827
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190730
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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