A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363493



Internal ID22199639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53930528..53930528hg38UCSC Ensembl
chr12:54324312..54324312hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560081
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363493
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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