A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14364924



Internal ID22257412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92243055..92256617hg38UCSC Ensembl
chr12:92636831..92650393hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3813563
hg1913563
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3220655
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14364924
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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