A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002466



Internal ID20569506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68628598..68639399hg38UCSC Ensembl
chr12:69022378..69033179hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3810802
hg1910802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6463131
Supporting Variants
Samples
Known GenesRAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002466
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00059


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