A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364709



Internal ID22132596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48493491..48494090hg38UCSC Ensembl
chr12:48887274..48887873hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38600
hg19600
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211994
Supporting Variants
SamplesHG00513
Known GenesC12orf54
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364709
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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