A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002465



Internal ID20569505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68610401..68612200hg38UCSC Ensembl
chr12:69004181..69005980hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6458282
Supporting Variants
Samples
Known GenesRAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002465
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.04224


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