A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057443



Internal ID106136
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 StatusS
Merged Variantsnsv5509936
Supporting Variants
Samples
Known GenesRASSF8, RASSF8-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057443
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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