A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14260828



Internal ID22119372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:19706853..19713863hg38UCSC Ensembl
Outerchr17:19610166..19617176hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387011
hg197011
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3210616
Supporting Variants
SamplesHG00512
Known GenesSLC47A2
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14260828
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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