A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367160



Internal ID22268629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115112624..115112734hg38UCSC Ensembl
chr12:115550429..115550539hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3527133
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367160
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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