A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14367985



Internal ID22136706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30684087..30684187hg38UCSC Ensembl
chr13:31258224..31258324hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210921
Supporting Variants
SamplesHG00513
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14367985
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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