A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690710



Internal ID114376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113122000..113128128hg38UCSC Ensembl
chr12:113559805..113565933hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386129
hg196129
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5503130
Supporting Variants
Samples
Known GenesRASAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690710
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00115


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