A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14365730



Internal ID22276877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:48003033..48005435hg38UCSC Ensembl
chr1:48468705..48471107hg19UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg382403
hg192403
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526881
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14365730
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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