A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366432



Internal ID22134958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113130651..113135600hg38UCSC Ensembl
chr12:113568456..113573405hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215604
Supporting Variants
SamplesHG00513
Known GenesRASAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366432
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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