A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14357694



Internal ID22128554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27874669..27875093hg38UCSC Ensembl
chr1:28201180..28201604hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3193965
Supporting Variants
SamplesHG00512
Known GenesTHEMIS2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14357694
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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