A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14328365



Internal ID22115971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11249937..11250063hg38UCSC Ensembl
chr1:11309994..11310120hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3196723
Supporting Variants
SamplesHG00512
Known GenesMTOR
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14328365
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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