A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14363392



Internal ID22199496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51194188..51194511hg38UCSC Ensembl
chr12:51587971..51588294hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38324
hg19324
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3212276
Supporting Variants
SamplesHG00732
Known GenesPOU6F1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14363392
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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