A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14361941



Internal ID22277260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69926058..69926114hg38UCSC Ensembl
chr12:70319838..70319894hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230320
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14361941
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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