A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364832



Internal ID22118894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:88233994..88234847hg38UCSC Ensembl
chr12:88627771..88628624hg19UCSC Ensembl
Cytoband12q21.32
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528316
Supporting Variants
SamplesHG00512
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364832
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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