A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14373257



Internal ID22230597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31048537..31055989hg38UCSC Ensembl
chr17:29375555..29383007hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg387453
hg197453
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3230237
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14373257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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