A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364829



Internal ID22201397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88127094..88127094hg38UCSC Ensembl
chr12:88520871..88520871hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3560106
Supporting Variants
SamplesHG00732
Known GenesCEP290
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364829
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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