A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365461



Internal ID22256965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:98551327..98551713hg38UCSC Ensembl
chr12:98945105..98945491hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38387
hg19387
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3224951
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365461
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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