A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688830



Internal ID112496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68611950..68624128hg38UCSC Ensembl
chr12:69005730..69017908hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3812179
hg1912179
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5499351
Supporting Variants
Samples
Known GenesRAP1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688830
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001102


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