A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5509936



Internal ID286570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:25959249..25959321hg38UCSC Ensembl
chr12:26112182..26112254hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057443
Samples
Known GenesRASSF8, RASSF8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5509936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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