A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362068



Internal ID22197988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73620587..73620733hg38UCSC Ensembl
chr12:74014367..74014513hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV duplication
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3211315
Supporting Variants
SamplesHG00732
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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