A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14366039



Internal ID22284167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:124438954..124439072hg38UCSC Ensembl
chr12:124923500..124923618hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3216000
Supporting Variants
SamplesNA19239
Known GenesNCOR2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14366039
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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