A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14362506



Internal ID22276724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31365670..31365978hg38UCSC Ensembl
chr12:31518604..31518912hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38309
hg19309
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3215755
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14362506
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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