A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362611



Internal ID22130316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6369001..6371650hg38UCSC Ensembl
chr12:6478167..6480816hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382650
hg192650
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217095
Supporting Variants
SamplesHG00513
Known GenesSCNN1A
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362611
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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